Impact of green tea on pharmacokinetics in cardiovascular therapy: current insights Shingen Misaka, José Pablo Werba Expert Opinion on Drug Metabolism and Toxicology, 2026 1. Tea (Camellia sinensis) is among the most extensively studied functional foods for its health-promoting properties in basic and clinical research [1]. In most prospective and retrospective studi...
Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group Cristina Pederiva, Federica Galimberti, Manuela Casula, Giuseppe Banderali, Guglielmo Beccuti, Vanessa Bianconi, Giacomo Biasucci, Marta Biolo, Marco Bucci, Paola Sabrina Buonuomo, Paolo Calabrò, Stefano Carugo, Angelo Baldassare Cefalù, Nadia Citroni, Nicholas Cocomello, Sergio D’Addato, Simona Gatti, Simonetta Genovesi, Ornella Guardamagna, Gabriella Iannuzzo, Lorenzo Iughetti, Giuseppe Mandraffino, Lorenzo Maroni, Ilenia Minicocci, Giuliana Mombelli, Tiziana Montalcini, Sara Moriglia, Sandro Muntoni, Fabio Nascimbeni, Angelina Passaro, Fabio Pellegatta, Livia Pisciotta, Elena Sani, Francesco Sbrana, Roberto Scicali, Patrizia Suppressa, José Pablo Werba, Maria Grazia Zenti, Marcello Arca, Maurizio Averna, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Maria Elena Capra Children, 2025 Background: Awareness, diagnosis, and treatment of familial hypercholesterolemia (FH) starting from childhood are a cornerstone of cardiovascular disease prevention. The LIPIGEN Paediatric Group, a network of specialised centres for the diagnosis and management of familial genetic dyslipidemia, is an active part of this mission. Materials and Methods: This is the second exploratory survey organised within the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) paediatric centres. A digital questionnaire consisting of 16 questions was proposed to the principal investigators of 35 LIPIGEN centres in September 2023. We analysed the main FH screening strategies implemented in Italy, which are the referral characteristics to the lipid clinics and clinical and biochemical criteria considered to diagnose FH in paediatric patients. Results: Centres frequently reported conducting cascade screening (88.6%) and reverse screening (57.1%), whereas 28.6% of respondents indicated using selective screening and only 5.7% reported employing child–parent screening. We documented a detailed biochemical characterisation of paediatric patients (62.9% of respondents usually perform full lipoprotein profile and 80% determine lipoprotein(a) for each patient) and a high percentage of genetic analysis (82.9%). We have also highlighted a quite low awareness of FH as a genetic condition involving paediatric patients among primary care paediatricians and general practitioners. Conclusions: The results of our survey show that specialised lipid centres usually have good diagnostic competence when dealing with paediatric patients with hypercholesterolemia. However, FH awareness and the importance of early diagnosis and treatment initiation in childhood still need to be further improved.
Correctness of Cardiovascular Risk Perception in Primary Prevention Care: A Multicenter Cross-sectional Italian Study Niccolò Simonelli, Mariangela Alberti, Miriana D'andrea, Alessia Martina Trenta, Elisabetta Bagnato, Andrea Faini, José Pablo Werba, Enrico Gianfranceschi, Debora Rosa, and Journal of Cardiovascular Nursing, 2025 Background The assessment of individual risk for cardiovascular disease is recommended in primary prevention; however, people may not have a correct perception of their personal cardiovascular risk. Objective The aim of this study was to compare cardiovascular risk perception with cardiovascular real risk among participants in Italian population screening events. Methods This is a cross-sectional multicenter study. Men and women without cardiovascular events aged 40 and 69 years were included. For each participant, sociodemographic and clinical data were collected, cardiovascular risk perception was measured by one 5-point Likert question, and cardiovascular real risk was calculated using the SCORE2 algorithm. Results A total sample of 286 participants was analyzed. The mean age was 53 years, and 69% were female; the larger part of participants demonstrated a low/moderate cardiovascular real risk (67.8%) and perceived the same level of cardiovascular risk perception (91.2%) as well. Most participants with a “high” or “very high” cardiovascular real risk (32.2% of the sample) reported an incorrect cardiovascular risk perception (91% and 94%, respectively). Incorrectness in cardiovascular risk perception was significantly (P < .001) associated with sociodemographic characteristics (sex, age, education, employment status) and clinical features of participants (smoking habit, arterial pressure, or lipid abnormalities). Conclusions In a sample of the Italian general population, an incorrect cardiovascular risk perception is associated with sociodemographic characteristics or clinical features that increase cardiovascular real risk. Community cardiovascular screening should comprise the evaluation of cardiovascular risk perception; future research might be directed to explore more in depth its determinants and consequences.
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study Amany Elshorbagy, Alexander R.M. Lyons, Antonio J. Vallejo-Vaz, Christophe A.T. Stevens, Kanika I. Dharmayat, Julia Brandts, Alberico L. Catapano, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Frederick J. Raal, Raul D. Santos, Handrean Soran, Gerald F. Watts, Marianne Abifadel, Carlos A. Aguilar-Salinas, Khalid F. Alhabib, Mutaz Alkhnifsawi, Wael Almahmeed, Rodrigo Alonso, Khalid Al-Rasadi, Ahmad Al-Sarraf, Tester F. Ashavaid, Maciej Banach, Christoph J. Binder, Mafalda Bourbon, Liam R. Brunham, Krzysztof Chlebus, Pablo Corral, Diogo Cruz, Kairat Davletov, Olivier S. Descamps, Marat Ezhov, Dan Gaita, Urh Groselj, Mariko Harada-Shiba, Kirsten B. Holven, Meral Kayikcioglu, Weerapan Khovidhunkit, Katarina Lalic, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Marcos M. Lima-Martinez, Jie Lin, Vincent Maher, A. David Marais, Winfried März, Erkin Mirrakhimov, André R. Miserez, Olena Mitchenko, Hapizah Nawawi, Børge G. Nordestgaard, Andrie G. Panayiotou, György Paragh, Zaneta Petrulioniene, Belma Pojskic, Arman Postadzhiyan, Ashraf Reda, Željko Reiner, Ximena Reyes, Fouzia Sadiq, Wilson E. Sadoh, Heribert Schunkert, Aleksandr B. Shek, Erik Stroes, Ta-Chen Su, Tavintharan Subramaniam, Andrey V. Susekov, Myra Tilney, Brian Tomlinson, Thanh-Huong Truong, Alexandros D. Tselepis, Anne Tybjærg-Hansen, Alejandra C. Vázquez, Margus Viigimaa, Branislav Vohnout, Luya Wang, Shizuya Yamashita, Marcello Arca, Maurizio Averna, Laura Schreier, Jing Pang, Christoph Ebenbichler, Hans Dieplinger, Reinhold Innerhofer, Yvonne Winhofer-Stöckl, Susanne Greber-Platzer, Konstantin Krychtiuk, Walter Speidl, Hermann Toplak, Kurt Widhalm, Thomas Stulnig, Kurt Huber, Florian Höllerl, Gersina Rega-Kaun, Lucas Kleemann, Martin Mäser, Sabine Scholl-Bürgi, Christoph Säly, Florian J. Mayer, Alexandra Sperone, Chloé Tanghe, Anne-Catherine Gérard, Lamija Pojskic, Ibrahim Sisic, Azra Durak Nalbantic, Malik Ejubovic, Cinthia E. Jannes, Alexandre C. Pereira, Jose E. Krieger, Ivo Petrov, Assen Goudev, Fedya Nikolov, Snejana Tisheva, Yoto Yotov, Ivajlo Tzvetkov, Alexis Baass, Jean Bergeron, Sophie Bernard, Diane Brisson, Liam R. Brunham, Lubomira Cermakova, Patrick Couture, Gordon A. Francis, Daniel Gaudet, Robert A. Hegele, Etienne Khoury, G.B. John Mancini, Brian W. McCrindle, Martine Paquette, Isabelle Ruel, Iulia Iatan, Ada Cuevas, Xumin Wang, Kang Meng, Xiantao Song, Qiang Yong, Tao Jiang, Ziyou Liu, Yanyu Duan, Jing Hong, Pucong Ye, Yan Chen, Jianguang Qi, Zesen Liu, Yuntao Li, Chaoyi Zhang, Jie Peng, Ya Yang, Wei Yu, Qian Wang, Hui Yuan, Shitong Cheng, Long Jiang, Mei Chong, Jian Jiao, Yue Wu, Wenhui Wen, Liyuan Xu, Ruiying Zhang, Yichen Qu, Jianxun He, Xuesong Fan, Zhenjia Wang, Elaine Chow, Ivan Pećin, Dražen Perica, Phivos Symeonides, Michal Vrablik, Richard Ceska, Vladimir Soska, Lukas Tichy, Vera Adamkova, Jana Franekova, Renata Cifkova, Pavel Kraml, Katerina Vonaskova, Jana Cepova, Magdalena Dusejovska, Lenka Pavlickova, Vladimir Blaha, Hana Rosolova, Barbora Nussbaumerova, Roman Cibulka, Helena Vaverkova, Lubica Cibickova, Zdenka Krejsova, Katerina Rehouskova, Pavel Malina, Milena Budikova, Vaclava Palanova, Lucie Solcova, Alena Lubasova, Helena Podzimkova, Juraj Bujdak, Jiri Vesely, Marta Jordanova, Tomas Salek, Robin Urbanek, Stanislav Zemek, Jan Lacko, Hana Halamkova, Sona Machacova, Sarka Mala, Eva Cubova, Katerina Valoskova, Lukas Burda, Marianne Benn, Ahmed Bendary, Ihab Daoud, Sameh Emil, Atef Elbahry, Samir Rafla, Osama Sanad, Ghada Kazamel, Dr Mohamed Ashraf, Mohamed Sobhy, Amro El-Hadidy, Mohamed Abdoul Shafy, Saif Kamal, Mohamed Bendary, Grete Talviste, Jutta Christmann, Alexander Dressel, Felix Fath, Chiara Ferraro, Lydia Frenzke, Alica Gopon, Isabel Klein, Dominika Pienkowska, Tobias Sietmann, Antonia Sonntag, Omar Adjan, Philipp Bahrmann, Andrea Baessler, Rasmus Barkowski, Raffi Beckerdjian, Christina Berr, Andreas Birkenfeld, Gereon Böll, Avisha Carstensen, Ilya Demuth, Holger Finkernagel, Ioanna Gouni-Berthold, Harry Hahmann, Michael Hamerle, Julian Halder, Maria Heide, Ulrich Julius, Ursula Kassner, Julius L Katzmann, Anja Kirschbaum, Gerald Klose, Stephanie Könemann, Christel König, Wolfgang König, Bernhard Krämer, Gerrit Kuprat, Ann-Cathrin Koschker, Bernhard Krämer, Özlem Kilic, Ulrich Laufs, Gerd Lindenmeier, Iris Van de Loo, Babette Lorenz, Elke Lorenz, Birgit Löhr, Johanna McChord, Mariya Maslarska, Heiko Methe, Martin Merkel, Zineb Moussaoui, Irina Müller-Kozarez, Christoph B Olivier, Peter Ong, Britta Otte, Klaus Parhofer, Carl-Joachim Partsch, Michael Paulus, Sinan Pehlivanli, Tobias Pflederer, Thomas Pusl, Veronika Richter, Stefanie Rosner, Veronika Sanin, Sebastian Schäfer, Christoph Schäfer, Ulrike Schatz, Stephan Schirmer, Christine Schmidt, Wolfgang Seeger, Snezna Sisovic, Antje Spens, Ksenija Stach Jablonski, Alexander Stadelmann, Elisabeth Steinhagen-Thiessen, Paulina Stürzebecher, Maria Tafelmeier, Dörthe Tillack, Sergey Tselmin, Adrienn Tünnemann-Tarr, Anja Vogt, Jens von Beckerath, Andreas Wilke, Ulrich Wolf, Claudia Zemmrich, Christos V. Rizos, Ioannis Skoumas, Konstantinos Tziomalos, Loukianos Rallidis, Vasileios Kotsis, Michalis Doumas, Vasileios Athyros, Emmanouil Skalidis, Genovefa Kolovou, Vana Kolovou, Anastasia Garoufi, Eleni Bilianou, Iosif Koutagiar, Estela Kiouri, Christina Antza, Evangelos Zacharis, Achilleas Attilakos, George Sfikas, Charalambos Koumaras, Panagiotis Anagnostis, Georgia Anastasiou, George Liamis, Amalia-Despoina Koutsogianni, Ermioni Petkou, Haralambos Milionis, Anastasia Koulouri, Elisavet Prodromiadou, Zsolt Karányi, Mariann Harangi, László Bajnok, Mária Audikovszky, László Márk, Béla Benczúr, István Reiber, Gergely Nagy, András Nagy, Lakshmi Lavanya Reddy, Swarup A. V Shah, Chandrashekhar K. Ponde, Jamshed J. Dalal, Jitendra P.S. Sawhney, Ishwar C. Verma, Mays Altaey, Khalid Al-Jumaily, Dilshad Rasul, Ali Fawzi Abdalsahib, Amer Abdl Jabbar, Mohanad Al-ageedi, Ali Fawzi Abdalsahib, Mohanad Al-ageedi, Mohammed Dhamin, Sarmad AlFil, Foad Khadhim, Sabah Miahy, Ruth Agar, Alberico Luigi Catapano, Marcello Arca, Maurizio Averna, Sebastiano Calandra, Patrizia Tarugi, Manuela Casula, Federica Galimberti, Elena Olmastroni, Riccardo Sarzani, Claudio Ferri, Elena Repetti, Salvatore Piro, Patrizia Suppressa, Giancarla Meregalli, Claudio Borghi, Sandro Muntoni, Paolo Calabrò, Francesco Cipollone, Francesco Purrello, Arturo Pujia, Angelina Passaro, Rossella Marcucci, Valerio Pecchioli, Livia Pisciotta, Giuseppe Mandraffino, Fabio Pellegatta, Giuliana Mombelli, Adriana Branchi, Anna Maria Fiorenza, Cristina Pederiva, Josè Pablo Werba, Gianfranco Parati, Francesca Carubbi, Lorenzo Iughetti, Giuliana Fortunato, Arcangelo Iannuzzi, Gabriella Iannuzzo, Angelo Baldassare Cefalù, Giacomo Biasucci, Sabina Zambon, Matteo Pirro, Francesco Sbrana, Chiara Trenti, Laura D'Erasmo, Massimo Federici, Maria Del Ben, Andrea Bartuli, Andrea Giaccari, Antonio Pipolo, Nadia Citroni, Ornella Guardamagna, Salvatore Lia, Andrea Benso, Gianni Biolo, Lorenzo Maroni, Alessandro Lupi, Luca Bonanni, Elisabetta Rinaldi, Maria Grazia Zenti, Kota Matsuki, Mika Hori, Masatsune Ogura, Daisaku Masuda, Takuya Kobayashi, Kumiko Nagahama, Mohammed Al-Jarallah, Mirjana Radovic, Olga Lunegova, Erkayim Bektasheva, Saamay Abilova, Andrejs Erglis, Dainus Gilis, Georgijs Nesterovics, Vita Saripo, Ruta Meiere, Gunda Skudrina, Elizabete Terauda, Selim Jambart, Carine Ayoub, Youmna Ghaleb, Urte Aliosaitiene, Sandra Kutkiene, Siti Hamimah Sheikh Abdul Kadir, Noor Alicezah Mohd Kasim, Noor Shafina Mohd Nor, Hasidah Abdul Hamid, Suraya Abdul Razak, Alyaa Al-Khateeb, Suhaila Abd Muid, Thuhairah Abdul Rahman, Sazzli Shahlan Kasim, Ahmad Bakhtiar Md Radzi, Khairul Shafiq Ibrahim, Marshima Mohd Rosli, Rafezah Razali, Yung An Chua, Aimi Zafira Razman, Sukma Azureen Nazli, Nazirul Aziz, Azhari Rosman, NorAzian Abdul Murad, Mohd Amin Jalaludin, Ahmad Zubaidi Abdul Latif, C. Azzopardi, Roopa Mehta, Alexandro J. Martagon, Gabriela A. Galan Ramirez, Neftali E Antonio Villa, Arsenio Vargas Vazquez, Daniel Elias-Lopez, Gustavo Gonzalez Retana, Betsabel Rodriguez, Jose J. Ceballos Macías, Alejandro Romero Zazueta, Rocio Martinez Alvarado, Julieta D. Morales Portano, Humberto Alvares Lopez, Leobardo Sauque-Reyna, Laura G. Gomez Herrera, Luis E. Simental Mendia, Humberto Garcia Aguilar, Elizabeth Ramirez Cooremans, Berenice Peña Aparicio, Victoria Mendoza Zubieta, Perla A. Carrillo Gonzalez, Aldo Ferreira-Hermosillo, Nacu Caracas Portilla, Guadalupe Jimenez Dominguez, Alinna Y. Ruiz Garcia, Hector E. Arriaga Cazares, Jesus R. Gonzalez, Carla V. Mendez Valencia, Francisco G. Padilla, Ramon Madriz Prado, Manuel O. De los Rios Ibarra, Ruy D. Arjona Villicaña, Karina J. Acevedo Rivera, Ricardo Allende Carrera, Jose A. Alvarez, Jose C. Amezcua Martinez, Manuel de los Reyes Barrera Bustillo, Gonzalo Carazo Vargas, Roberto Contreras Chacon, Mario H. Figueroa Andrade, Ashanty Flores Ortega, Hector Garcia Alcala, Laura E. Garcia de Leon, Berenice Garcia Guzman, Jose J. Garduño Garcia, Juan C. Garnica Cuellar, Jose R. Gomez Cruz, Anell Hernandez Garcia, Jesus R. Holguin Almada, Ursulo Juarez Herrera, Fabiola Lugo Sobrevilla, Eduardo Marquez Rodriguez, Cristina Martinez Sibaja, Alma B. Medrano Rodriguez, Jose C. Morales Oyervides, Daniel I. Perez Vazquez, Eduardo A. Reyes Rodriguez, Ma. Ludivina Robles Osorio, Juan Rosas Saucedo, Margarita Torres Tamayo, Luis A. Valdez Talavera, Luis E. Vera Arroyo, Eloy A. Zepeda Carrillo, Erik S Stroes, J Defesche, L Zuurbier, L Reeskamp, S Ibrahim, Jeanine Roeters van Lennep, Albert Wiegman, Alphonsus Isara, Darlington E. Obaseki, Khalid Al-Waili, Fahad Al-Zadjali, Ibrahim Al-Zakwani, Mohammed Al-Kindi, Suad Al-Mukhaini, Hamida Al-Barwani, Asim Rana, Lahore Saeed Ullah Shah, Fahad Al-Nouri, Ewa Starostecka, Agnieszka Konopka, Agata Bielecka-Dabrowa, Joanna Lewek, Bozena Sosnowska, Mariusz Gąsior, Krzysztof Dyrbuś, Jacek Jóźwiak, Marcin Pajkowski, Marzena Romanowska-Kocejko, Marta Żarczyńska-Buchowiecka, Magdalena Chmara, Bartosz Wasąg, Aneta Stróżyk, Aleksandra Michalska-Grzonkowska, Ana Margarida Medeiros, Ana Catarina Alves, Francisco Silva, Goreti Lobarinhas, Isabel Palma, Jose Pereira de Moura, Miguel Toscano Rico, Quitéria Rato, Patrícia Pais, Susana Correia, Oana Moldovan, Maria João Virtuoso, Francisco Araujo, Jose Miguel Salgado, Ines Colaço, Andreea Dumitrescu, Calin Lengher, Svetlana Mosteoru, Alexey Meshkov, Alexandra Ershova, Tatiana Rozhkova, Victoria Korneva, Kuznetsova T. Yu, Vitaliy Zafiraki, Mikhail Voevoda, Victor Gurevich, Dmitry Duplyakov, Yulia Ragino, Uliana Chubykina, Igor Shaposhnik, Fahmi Alkaf, Alia Khudari, Nawal Rwaili, Faisal Al-Allaf, Mohammad Alghamdi, Mohammed A Batais, Turky H Almigbal, Abdulhalim Kinsara, Ashraf Hammouda Ahmed AlQudaimi, Zuhier Awan, Omer A Elamin, Hani Altaradi, Ljiljana Popovic, Sandra Singh, Iva Rasulic, Ana Petakov, Nebojsa M. Lalic, Carolyn Lam, Tan Ju Le, Eric Lim Tien Siang, Sanjaya Dissanayake, Justin Tang I-Shing, Tai E Shyong, Terrance Chua Siang Jin, Sharon Pek Li Ting, Jeremy Hoe Kian Ming, Chester Lee Drum, Fathima Ashna Nastar, Loh Wann Jia, Natalie Koh Si Ya, Marvin Chua Wei Jie, Rinkoo Dalan, Yong Quek Wei, Tiong Yee sian, Yeo Khung Keong, Siau Kai Rong, Darren Seah Ee Jin, Ian Koh Jan Ming, Tan Hong Chang, Fabian Yap Kok Peng, Rashida Farhad Vasanwala, Katarina Raslova, Karin Balinth, Ingrid Buganova, Lubomira Fabryova, Michaela Kadurova, Alexander Klabnik, Miriam Kozárová, Jana Sirotiakova, Tadej Battelino, Matija Cevc, Marusa Debeljak, Ana Drole Torkar, Zlatko Fras, Borut Jug, Barbara Kern Cugalj, Jernej Kovac, Matej Mlinaric, Jaka Sikonja, Gillian Joan Pilcher, D J Blom, K H Wolmarans, B C Brice, Ovidio Muñiz-Grijalvo, Jose Luis Díaz-Díaz, Leopoldo Pérez de Isla, Francisco Fuentes, Lina Badimon, François Martin, Eleonore B. Miserez, Janine L. Shipton, Poranee Ganokroj, Pairoj Chattranukulchai, Wiroj Jiamjarasrungsi, Nuntakorn Thongtang, Rungroj Krittayaphong, Prin Vathesatogkit, Chutintorn Sriphrapradang, Mattabhorn Phimphilai, Rattana Leelawattana, Pimjai Anthanont, Swangjit Suraamornkul, Chaicharn Deerochanawong, Vichai Senthong, Artit Torpongpun, Panuwat Suteerayongprasert, Nawarat Pengpong, Nattapol Sathavarodom, Usanee Sunanta, Thachanun Porntharukchareon, Phatharaporn Kiatpanabhikul, Chatchon Kaewkrasaesin, Jaruwan Kongkit, Mongkontida Umphonsathien, Mehmet Akbulut, Gökhan Alici, Fahri Bayram, Levent Hürkan Can, Ahmet Celik, Ceyhun Ceyhan, Fatma Yilmaz Coskun, Mesut Demir, Sabri Demircan, Volkan Dogan, Emre Durakoglugil, İbrahim Etem Dural, Omer Gedikli, Aysa Hacioglu, Muge Ildizli, Salih Kilic, Bahadir Kirilmaz, Merih Kutlu, Aytekin Oguz, Oner Ozdogan, Ersel Onrat, Savas Ozer, Tevfik Sabuncu, Tayfun Sahin, Fatih Sivri, Alper Sonmez, Ahmet Temizhan, Selim Topcu, Lale Tokgozoglu, Abdullah Tuncez, Mirac Vural, Mustafa Yenercag, Dilek Yesilbursa, Zerrin Yigit, Aytul Belgi Yildirim, Aylin Yildirir, Mehmet Birhan Yilmaz, Bassam Atallah, Mahmoud Traina, Hani Sabbour, Dana Abdul Hay, Neama Luqman, Abubaker Elfatih, Arshad Abdulrasheed, Yosef Manla, See Kwok, Nicolas DellOca, Rano B. Alieva, Khurshid G. Fozilov, Shavkat U. Hoshimov, Ulugbek I. Nizamov, Liliya E. Kan, Andrey R. Kim, Guzal J. Abdullaeva, Alisher A. Abdullaev, Doan Loi Do, Mai Ngoc Thi Nguyen, Ngoc Thanh Kim, Thanh Tung Le, Hong An Le, Kausik K. Ray Lancet Diabetes and Endocrinology, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry Laura D’Erasmo, Simone Bini, Manuela Casula, Marta Gazzotti, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Maurizio Averna, Gabriella Iannuzzo, Giuliana Fortunato, Alberico L Catapano, Marcello Arca, , Massimiliano Allevi, Renata Auricchio, Giuseppe Banderali, Francesco Baratta, Andrea Bartuli, Vanessa Bianconi, Katia Bonomo, Marta Brambilla, Adriana Branchi, Patrizia Bruzzi, Marco Bucci, Paola Sabrina Buonuomo, Paolo Calabrò, Francesca Carrubbi, Franco Cavalot, Francesco Cipollone, Sergio D’Addato, Beatrice Dal Pino, Maria Del Ben, Alessia Di Costanzo, Maria Donata Di Taranto, Tommaso Fasano, Claudio Ferri, Fabio Fimiani, Federica Fogacci, Elena Formisano, Federica Galimberti, Antonina Giammanco, Liliana Grigore, Lorenzo Iughetti, Giuseppe Mandraffino, Giuliana Mombelli, Tiziana Montalcini, Sandro Muntoni, Fabio Nascimbeni, Emanuele A Negri, Serena Notargiacomo, Davide Noto, Angelina Passaro, Chiara Pavanello, Valerio Pecchioli, Lorenzo Pecchioli, Cristina Pederiva, Fabio Pellegatta, Cristina Piras, Salvatore Piro, Matteo Pirro, Livia Pisciotta, Arturo Pujia, Elisabetta Rinaldi, Luigi Rizzi, Juana Maria Sanz, Riccardo Sarzani, Francesco Sbrana, Roberto Scicali, Patrizia Suppressa, Arianna Toscano, Daniele Tramontano, Giovanni B Vigna, Josè Pablo Werba, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti European Journal of Preventive Cardiology, 2024 Aims The availability of novel lipid-lowering therapies (LLTs) has remarkably changed the clinical management of homozygous familial hypercholesterolaemia (HoFH). The impact of these advances was evaluated in a cohort of 139 HoFH patients followed in a real-world clinical setting. Methods and results The clinical characteristics of 139 HoFH patients, along with information about LLTs and low-density lipoprotein cholesterol (LDL-C) levels at baseline and after a median follow-up of 5 years, were retrospectively retrieved from the records of patients enrolled in the LIPid transport disorders Italian GEnetic Network-Familial Hypercholesterolaemia (LIPIGEN-FH) Registry. The annual rates of major atherosclerotic cardiovascular events (MACE-plus) during follow-up were compared before and after baseline. Additionally, the lifelong survival free from MACE-plus was compared with that of the historical LIPIGEN HoFH cohort. At baseline, LDL-C level was 332 ± 138 mg/dL. During follow-up, the potency of LLTs was enhanced and, at the last visit, 15.8% of patients were taking quadruple therapy. Consistently, LDL-C decreased to an average value of 124 mg/dL corresponding to a 58.3% reduction (Pt &lt; 0.001), with the lowest value (∼90 mg/dL) reached in patients receiving proprotein convertase subtilisin/kexin type 9 inhibitors and lomitapide and/or evinacumab as add-on therapies. The average annual MACE-plus rate in the 5-year follow-up was significantly lower than that observed during the 5 years before baseline visit (21.7 vs. 56.5 per 1000 patients/year; P = 0.0016). Conclusion Our findings indicate that the combination of novel and conventional LLTs significantly improved LDL-C control with a signal of better cardiovascular prognosis in HoFH patients. Overall, these results advocate the use of intensive, multidrug LLTs to effectively manage HoFH.
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia Janneke W. C. M. Mulder, Tycho R. Tromp, Mutaz Al-Khnifsawi, Dirk J. Blom, Krysztof Chlebus, Marina Cuchel, Laura D’Erasmo, Antonio Gallo, G. Kees Hovingh, Ngoc Thanh Kim, Jiang Long, Frederick J. Raal, Willemijn A. M. Schonck, Handrean Soran, Thanh-Huong Truong, Eric Boersma, Jeanine E. Roeters van Lennep, Mohammed D. Alareedh, Rano Alieva, Massimiliano Allevi, Bulent B. Altunkeser, Khalid Al-Waili, Ali F. Al-Zamili, Marcello Arca, Luigi Atzori, Maurizio Averna, Mahmoud H. Ayesh, Sami T. Azar, Giuseppe Banderali, Francesco Baratta, Andrea Bartuli, Sophie Béliard, Vanessa Bianconi, Simone Bini, Khalid Bin Thani, Fadi F. Bitar, Vladimir Blaha, Katia Bonomo, Mafalda Bourbon, Adriana Branchi, Julie A. Brothers, Eric Bruckert, Liam R. Brunham, Patrizia Bruzzi, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, David Cassiman, Manuela Casula, Alberico L. Catapano, Franco Cavalot, Angelo B. Cefalù, Arturo Cesaro, Richard Ceska, Min-Ji Charng, Francesco Cipollone, Hofit Cohen, Sergio D'Addato, Beatrice Dal Pino, Eldad J. Dann, Joep C. Defesche, Maria Del Ben, Sinan Demircioglu, Olivier S. Descamps, Alessia Di Costanzo, Maria D. Di Taranto, Doan-Loi Do, Ronen Durst, Jana Dvorakova, Christoph F. Ebenbichler, Avishay Elis, Sameh Emil, Marat V. Ezhov, Akl C. Fahed, Tommaso Fasano, Claudio Ferri, Federica Fogacci, Elena Formisano, Giuliana Fortunato, Gordon A. Francis, Tomas Freiberger, Federica Galimberti, Isabel M. Gaspar, Jacques Genest, Marco Gentile, Antonina Giammanco, Cumali Gokce, Susanne Greber-Platzer, Liliana Grigore, Urh Groselj, Mariko Harada-Shiba, Merel L. Hartgers, Robert A. Hegele, Pavel Horak, Mika Hori, Lisa C. Hudgins, Osama Hussein, Gabriella Iannuzzo, Osman Ilhan, Lorenzo Iughetti, Meral Kayikcioglu, Leyla G. Kaynar, Brooke A. Kennedy, Weerapan Khovidhunkit, Genovefa Kolovou, Melis Kose, Irfan Kuku, Erdal Kurtoglu, Katarina S. Lalic, Hong-An Le, Thanh-Tung Le, Eran Leitersdorf, Evangelos Liberopoulos, Alexander R.M. Lyons, Ramón Madriz, Giuseppe Mandraffino, Martin Mäser, Roopa Mehta, Olena Mitchenko, Giuliana Mombelli, Tiziana Montalcini, Carmela Morace, Elie M. Moubarak, Sandro Muntoni, Tarek A. Naguib, Fabio Nascimbeni, Hapizah Nawawi, Georges Nemer, Mai-Ngoc T. Nguyen, Serena Notargiacomo, Harika Okutan, Osman I. Ozcebe, Jing Pang, Angelina Passaro, Chiara Pavanello, Lorenzo Pecchioli, Valerio Pecchioli, Cristina Pederiva, Zafer Pekkolay, Fabio Pellegatta, Salvatore Piro, Matteo Pirro, Livia Pisciotta, Arturo Pujia, Kausik K. Ray, Ashraf Reda, M. Doortje Reijman, Željko Reiner, Sabah H. Rhadi, Luigi Rizzi, Alessandra Romandini, Isabelle Ruel, Daisy Rymen, Fouzia Sadiq, Saim Sag, Osman Z. Salcioglu, Raul D. Santos, Juana M. Sanz, Riccardo Sarzani, Francesco Sbrana, Daniel Schurr, Roberto Scicali, Nitika Setia, Foaad K. Shaghee, Aleksandr Shek, Mark H. Sherman, Vladimir Soska, Christophe A.T. Stevens, Erik S.G. Stroes, Thomas M. Stulnig, Patrizia Suppressa, Andrey V. Susekov, Patrizia Tarugi, Ahmet Temizhan, Lukas Tichy, Chiara Trenti, Tycho R. Tromp, Robin Urbanek, Antonio J. Vallejo-Vaz, helena Vaverkova, Ishwar C. Verma, Michal Vrablik, Luya Wang, Gerald F. Watts, José P. Werba, Albert Wiegman, Peter Witters, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Alberto Zambon, Sabina Zambon, Stanislav Zemek, Maria G. Zenti, Lukas Zlatohlavek, Linda Zuurbier, and JAMA Cardiology, 2024 ImportanceHomozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous familial hypercholesterolemia (HeFH) is more common than HoFH, and women with HeFH are diagnosed later and undertreated compared to men; it is unknown whether these sex differences also apply to HoFH.ObjectiveTo investigate sex differences in age at diagnosis, risk factors, lipid-lowering treatment, and ASCVD morbidity and mortality in patients with HoFH.Design, Setting, and ParticipantsSex-specific analyses for this retrospective cohort study were performed using data from the HoFH International Clinical Collaborators (HICC) registry, the largest global dataset of patients with HoFH, spanning 88 institutions across 38 countries. Patients with HoFH who were alive during or after 2010 were eligible for inclusion. Data entry occurred between February 2016 and December 2020. Data were analyzed from June 2022 to June 2023.Main Outcomes and MeasuresComparison between women and men with HoFH regarding age at diagnosis, presence of risk factors, lipid-lowering treatment, prevalence, and onset and incidence of ASCVD morbidity (myocardial infarction [MI], aortic stenosis, and combined ASCVD outcomes) and mortality.ResultsData from 389 women and 362 men with HoFH from 38 countries were included. Women and men had similar age at diagnosis (median [IQR], 13 [6-26] years vs 11 [5-27] years, respectively), untreated LDL cholesterol levels (mean [SD], 579 [203] vs 596 [186] mg/dL, respectively), and cardiovascular risk factor prevalence, except smoking (38 of 266 women [14.3%] vs 59 of 217 men [27.2%], respectively). Prevalence of MI was lower in women (31 of 389 [8.0%]) than men (59 of 362 [16.3%]), but age at first MI was similar (mean [SD], 39 [13] years in women vs 38 [13] years in men). Treated LDL cholesterol levels and lipid-lowering therapy were similar in both sexes, in particular statins (248 of 276 women [89.9%] vs 235 of 258 men [91.1%]) and lipoprotein apheresis (115 of 317 women [36.3%] vs 118 of 304 men [38.8%]). Sixteen years after HoFH diagnosis, women had statistically significant lower cumulative incidence of MI (5.0% in women vs 13.7% in men; subdistribution hazard ratio [SHR], 0.37; 95% CI, 0.21-0.66) and nonsignificantly lower all-cause mortality (3.0% in women vs 4.1% in men; HR, 0.76; 95% CI, 0.40-1.45) and cardiovascular mortality (2.6% in women vs 4.1% in men; SHR, 0.87; 95% CI, 0.44-1.75).Conclusions and RelevanceIn this cohort study of individuals with known HoFH, MI was higher in men compared with women yet age at diagnosis and at first ASCVD event were similar. These findings suggest that early diagnosis and treatment are important in attenuating the excessive cardiovascular risk in both sexes.
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study Kanika Inamdar Dharmayat, Antonio J. Vallejo-Vaz, Christophe A.T. Stevens, Julia M. Brandts, Alexander R.M. Lyons, Urh Groselj, Marianne Abifadel, Carlos A. Aguilar-Salinas, Khalid Alhabib, Mutaz Alkhnifsawi, Wael Almahmeed, Fahad Alnouri, Rodrigo Alonso, Khalid Al-Rasadi, Tester F. Ashavaid, Maciej Banach, Sophie Béliard, Christoph Binder, Mafalda Bourbon, Krzysztof Chlebus, Pablo Corral, Diogo Cruz, Olivier S. Descamps, Euridiki Drogari, Ronen Durst, Marat V. Ezhov, Jacques Genest, Mariko Harada-Shiba, Kirsten B. Holven, Steve E. Humphries, Weerapan Khovidhunkit, Katarina Lalic, Ulrich Laufs, Evangelos Liberopoulos, Jeanine Roeters van Lennep, Marcos Miguel Lima-Martinez, Jie Lin, Vincent Maher, Winfried März, André R. Miserez, Olena Mitchenko, Hapizah Nawawi, Andrie G. Panayiotou, György Paragh, Arman Postadzhiyan, Ashraf Reda, Željko Reiner, Ximena Reyes, Fouzia Sadiq, Amirhossein Sahebkar, Heribert Schunkert, Aleksandr B. Shek, Eric Stroes, Ta-Chen Su, Tavintharan Subramaniam, Andrey Susekov, Alejandra Vázquez Cárdenas, Thanh Huong Truong, Alexandros D. Tselepis, Branislav Vohnout, Luya Wang, Shizuya Yamashita, Ahmad Al-Sarraf, Nasreen Al-Sayed, Kairat Davletov, Bambang Dwiputra, Dan Gaita, Meral Kayikcioglu, Gustavs Latkovskis, A. David Marais, Anne Thushara Matthias, Erkin Mirrakhimov, Børge G. Nordestgaard, Zaneta Petrulioniene, Belma Pojskic, Wilson Sadoh, Myra Tilney, Brian Tomlinson, Anne Tybjærg-Hansen, Margus Viigimaa, Alberico L. Catapano, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Handrean Soran, Frederick Raal, Gerald F. Watts, Laura Schreier, Virginia Bañares, Susanne Greber-Platzer, Margot Baumgartner-Kaut, Charlotte de Gier, Hans Dieplinger, Florian Höllerl, Reinhold Innerhofer, Daniela Karall, Julia Lischka, Bernhard Ludvik, Martin Mäser, Sabine Scholl-Bürgi, Alexandra Thajer, Hermann Toplak, Fabian Demeure, Ann Mertens, Jean-Luc Balligand, Xavier Stephenne, Etienne Sokal, Ivo Petrov, Assen Goudev, Fedya Nikolov, Snejana Tisheva, Yoto Yotov, Ivajlo Tzvetkov, Robert A Hegele, Daniel Gaudet, Liam Brunham, Isabelle Ruel, Brian McCrindle, Ada Cuevas, Dražen Perica, Phivos Symeonides, Efstratios Trogkanis, Andreas Kostis, Andreas Ioannou, Angeliki Mouzarou, Anthoula Georgiou, Andreas Stylianou, George Miltiadous, Paris Iacovides, Constantinos Deltas, Michal Vrablik, Zuzana Urbanova, Pavel Jesina, Lukas Tichy, Josef Hyanek, Jana Dvorakova, Jana Cepova, Josef Sykora, Kristyna Buresova, Michal Pipek, Eva Pistkova, Ivana Bartkova, Astrid S|ulakova, Lenka Toukalkova, Michaela Spenerova, Jan Maly, Marianne Benn, Ahmed Bendary, Atef Elbahry, Jean Ferrières, Dorota Ferrieres, Noel Peretti, Eric Bruckert, Antonio Gallo, René Valero, Florian Mourre, Karine Aouchiche, Rachel Reynaud, Patrick Tounian, Julie Lemale, Franck Boccara, Philippe Moulin, Sybil Charrières, Mathilde Di Filippo, Bertrand Cariou, François Paillard, Caroline Dourmap, Alain Pradignac, Bruno Verges, Isabelle Simoneau, Michel Farnier, Yves Cottin, Cecile Yelnik, Regis Hankard, François Schiele, Vincent Durlach, Ariane Sultan, Alain Carrié, Jean-Pierre Rabès, Veronika Sanin, Roland Schmieder, Sara Ates, Christos V. Rizos, Ioannis Skoumas, Konstantinos Tziomalos, Loukianos Rallidis, Vasileios Kotsis, Michalis Doumas, Emmanouil Skalidis, Genovefa Kolovou, Vana Kolovou, Anastasia Garoufi, Iosif Koutagiar, Georgios Polychronopoulos, Estela Kiouri, Christina Antza, Evangelos Zacharis, Achilleas Attilakos, George Sfikas, Charalambos Koumaras, Panagiotis Anagnostis, Georgia Anastasiou, George Liamis, Petros-Spyridon Adamidis, Haralambos Milionis, Vaia Lambadiari, Stella Stabouli, Theodosios Filippatos, Vicky Mollaki, Anastasia Tsaroumi, Frida Lamari, Pavlos Proyias, Mariann Harangi, Lakshmi Lavanya Reddy, Swarup A. V Shah, Chandrashekhar K. Ponde, Jamshed J. Dalal, Jitendra P.S. Sawhney, Ishwar C. Verma, Susan Hosseini, Tannaz Jamialahmadi, Mohammed Alareedh, Foaad Shaghee, Sabah Hasan Rhadi, Maryam Abduljalal, Sarmad Alfil, Huda Kareem, Hofit Cohen, Eran Leitersdorf, Daniel Schurr, Shoshi Shpitzen, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Manuela Casula, Federica Galimberti, Marta Gazzotti, Elena Olmastroni, Riccardo Sarzani, Claudio Ferri, Elena Repetti, Francesco Giorgino, Patrizia Suppressa, Antonio Carlo Bossi, Claudio Borghi, Sandro Muntoni, Francesco Cipollone, Roberto Scicali, Arturo Pujia, Angelina Passaro, Martina Berteotti, Valerio Pecchioli, Livia Pisciotta, Giuseppe Mandraffino, Fabio Pellegatta, Giuliana Mombelli, Adriana Branchi, Anna Maria Fiorenza, Cristina Pederiva, José Pablo Werba, Gianfranco Parati, Fabio Nascimbeni, Lorenzo Iughetti, Giuliana Fortunato, Raimondo Cavallaro, Gabriella Iannuzzo, Paolo Calabrò, Angelo Baldassare Cefalù, Maria Elena Capra, Alberto Zambon, Matteo Pirro, Francesco Sbrana, Chiara Trenti, Ilenia Minicocci, Massimo Federici, Maria Del Ben, Paola Sabrina Buonuomo, Simona Moffa, Antonio Pipolo, Nadia Citroni, Ornella Guardamagna, Salvatore Lia, Andrea Benso, Gianni Biolo Biolo, Lorenzo Maroni, Alessandro Lupi, Luca Bonanni, Elisabetta Rinaldi, Maria Grazia Zenti, Daisaku Masuda, Linda Mahfouz, Selim Jambart, Carine Ayoub, Youmna Ghaleb, Noor Alicezah Mohd Kasim, Noor Shafina Mohd Nor, Alyaa Al-Khateeb, Siti Hamimah Sheikh Abdul Kadir, Yung-An Chua, Aimi Zafira Razman, Sukma Azureen Nazli, Norashikin Mohd Ranai, Ahmad Zubaidi Abd Latif, María Teresa Magaña Torres, Roopa Mehta, Alexandro J. Martagon, Gabriela A. Galan Ramirez, Neftali Eduardo Antonio-Villa, Arsenio Vargas-Vazquez, Daniel Elias-Lopez, Gustavo Gonzalez Retana, Bethsabel Rodriguez Encinas, Jose J. Ceballos Macias, Alejandro Romero Zazueta, Rocio Martinez Alvarado, Julieta D. Morales Portano, Humberto Alvares Lopez, Leobardo Sauque-Reyna, Laura G. Gomez Herrera, Luis E. Simental Mendia, Humberto Garcia Aguilar, Elizabeth Ramirez Cooremans, Berenice Pe~na Aparicio, Victoria Mendoza Zubieta, Perla A. Carrillo Gonzalez, Aldo Ferreira-Hermosillo, Nacu Caracas Portilla, Guadalupe Jimenez Dominguez, Alinna Y. Ruiz Garcia, Hector E. Arriaga Cazares, Jesus R. Gonzalez Gonzalez, Carla V. Mendez Valencia, Francisco G. Padilla Padilla, Ramon Madriz Prado, Manuel O. De los Rios Ibarra, Ruy D. Arjona Villica~na, Karina J. Acevedo Rivera, Ricardo Allende Carrera, Jose A. Alvarez, Jose C. Amezcua Martinez, Manuel de los Reyes Barrera Bustillo, Gonzalo Carazo Vargas, Roberto Contreras Chacon, Mario H. Figueroa Andrade, Ashanty Flores Ortega, Hector Garcia Alcala, Laura E. Garcia de Leon, Berenice Garcia Guzman, Jose J. Gardu~no Garcia, Juan C. Garnica Cuellar, Jose R. Gomez Cruz, Anell Hernandez Garcia, Jesus R. Holguin Almada, Ursulo Juarez Herrera, Fabiola Lugo Sobrevilla, Eduardo Marquez Rodriguez, Cristina Martinez Sibaja, Alma B. Medrano Rodriguez, Jose C. Morales Oyervides, Daniel I. Perez Vazquez, Eduardo A. Reyes Rodriguez, Ma. Ludivina Robles Osorio, Juan Rosas Saucedo, Margarita Torres Tamayo, Luis A. Valdez Talavera, Luis E. Vera Arroyo, Eloy A. Zepeda Carrillo, Annette Galema-Boers, Albert Weigman, Martin P. Bogsrud, Munir Malik, Saeedullah Shah, Sabeen Abid Khan, Muhammad Asim Rana, Hijab Batool, Ewa Starostecka, Agnieszka Konopka, Joanna Lewek, Agata Bielecka-Dąbrowa, Agnieszka Gach, Jacek Jóźwiak, Marcin Pajkowski, Marzena Romanowska-Kocejko, Marta Żarczyńska-Buchowiecka, Marcin Hellman, Magdalena Chmara, Bartosz Wasąg, Aleksandra Parczewska, Natasza Gilis-Malinowska, Justyna Borowiec-Wolna, Aneta Stróżyk, Aleksandra Michalska-Grzonkowska, Izabela Chlebus, Mariola Kleinschmidt, Agnieszka Wojtecka, Tomasz Zdrojewski, Małgorzata Myśliwiec, Matylda Hennig, Ana Margarida Medeiros, Ana Catarina Alves, Ana Filipa Almeida, Andreia Lopes, António Guerra, Carla Bilhoto, Fernando Simões, Francisco Silva, Goreti Lobarinhas, Guida Gama, Isabel Palma, José Miguel Salgado, Luísa Diogo Matos, Márcio de Moura, Maria João Virtuoso, Mónica Tavares, Patrícia Ferreira, Patrícia Pais, Paula Garcia, Raquel Coelho, Raquel Ribeiro, Susana Correia, Dinara Sadykova, Evgenia Slastnikova, Dalal Alammari, Horia Ahmed Mawlawi, Atif Alsahari, Alia Abdullah Khudary, Nawal Lafi Alrowaily, Natasa Rajkovic, Ljiljana Popovic, Sandra Singh, Iva Rasulic, Ana Petakov, Nebojsa M. Lalic, Fabian Kok Peng, Rashida Farhan Vasanwala, Sreedharan Aravind Venkatesh, Katarina Raslova, Lubomira Fabryova, Jan Nociar, Jana Šaligova, Ludmila Potočňáková, Miriam Kozárová, Tibor Varga, Michaela Kadurova, Marianna Debreova, Peter Novodvorsky, Katarina Gonova, Alexander Klabnik, Ingrid Buganova, Tadej Battelino, Barbara Jenko Bizjan, Marusa Debeljak, Jernej Kovac, Matej Mlinaric, Neza Molk, Jaka Sikonja, Ursa Sustar, Katarina Trebusak Podkrajsek, Ovidio Muñiz-Grijalvo, Jose Luis Díaz-Díaz, Raimundo de Andrés, Francisco Fuentes-Jiménez, Dirk Blom, Eleonore B. Miserez, Janine L. Shipton, Poranee Ganokroj, Marta Futema, Uma Ramaswami, Rano B. Alieva, Khurshid G. Fozilov, Shavkat U. Khoshimov, Ulugbek I. Nizamov, Guzal J. Abdullaeva, Liliya E. Kan, Alisher A. Abdullaev, Daria V. Zakirova, Doan-Loi Do, Mai-Ngoc-Thi Nguyen, Ngoc-Thanh Kim, Thanh-Tung Le, Hong-An Le, Raul Santos, Kausik K. Ray Lancet, 2024 BACKGROUND: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. METHODS: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. FINDINGS: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. INTERPRETATION: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life. FUNDING: Pfizer, Amgen, Merck Sharp & Dohme, Sanofi-Aventis, Daiichi Sankyo, and Regeneron.
Hemostatic system in Takotsubo patients at long-term follow-up: A hidden activation? Patrizia Amadio, Benedetta Porro, Viviana Cavalca, Marta Zarà, Sonia Eligini, Leonardo Sandrini, José Pablo Werba, Nicola Cosentino, Paolo Olivares, Arianna Galotta, Alice Bonomi, Elena Tremoli, Daniela Trabattoni, Silvia Stella Barbieri International Journal of Cardiology, 2023 BACKGROUND: Takotsubo cardiomyopathy (TTS) has long been considered a benign condition, despite recurrent events and long-term adverse outcomes are often reported. Endothelial damage, blood hyperviscosity, and platelet activation described in acute phase persist in long-term follow-up; however, TTS pathophysiology is still not fully understood. Here, we explored the hemostatic system at a median of 3.1 years after TTS to uncover additional long-lasting changes in these patients. METHODS: We assessed hemostatic parameters in women with TTS (n = 23) or coronary artery disease (CAD; n = 31) and in control women (n = 26) age-matched, by thromboelastographic analysis, prothrombin time (PT) and partial thromboplastin time (aPTT) coagulation assays and microparticle exposing Tissue Factor (MP-TF). Functional fibrinogen and fibrin polymerization were analyzed by Clauss method and spectrophotometry, respectively. Platelet reactivity was evaluated by light transmission aggregometry, whereas plasminogen activator inhibitor-1 (PAI-1) and brain-derived neurotrophic factor (BDNF) were measured by ELISA kit. RESULTS: Compared with control subjects, TTS patients exhibit an accelerated clot formation, higher percentage of fibrin polymerization and higher PAI-1 levels. Compared with CAD, TTS patients showed sustained residual platelet activation but decreased functional fibrinogen, fibrin polymerization and MP-TF levels, prolonged aPTT and a marked BDNF increase. CONCLUSIONS: The long-term activation of hemostatic system observed in TTS patients compared to control subjects suggests a persistent humoral abnormality that may be related to the propensity for TTS recurrence. The higher residual platelet activity observed in TTS than in CAD patients invites investigation on TTS-tailored antiplatelet therapy potentially needed to prevent TTS adverse outcomes.
Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study Manuela Casula, Marta Gazzotti, Maria Elena Capra, Elena Olmastroni, Federica Galimberti, Alberico L. Catapano, Cristina Pederiva, Adriano Anesi, Marcello Arca, Renata Auricchio, Maurizio Averna, Davide Baldera, Giuseppe Banderali, Guglielmo Beccuti, Andrea Benso, Martina Berteotti, Stefano Bertolini, Vanessa Bianconi, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Patrizia Bruzzi, Marco Bucci, Paola Sabrina Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, Raimondo Cavallaro, Angelo Baldassarre Cefalù, Arturo Cesaro, Francesco Cipollone, Nadia Citroni, Emanuela Colombo, Chiara Coppola, Sergio D'Addato, Beatrice Dal Pino, Edoardo Dalla Nora, Giuseppe De Corrado, Maria Del Ben, Sergio Di Molfetta, Maria Donata Di Taranto, Giulia Fainelli, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Elena Formisano, Giuliana Fortunato, Andrea Giaccari, Francesco Giorgino, Liliana Grigore, Ornella Guardamagna, Arcangelo Iannuzzi, Gabriella Iannuzzo, Lorenzo Iughetti, Salvatore Lia, Susanna Longo, Alessandro Lupi, Giuseppe Mandraffino, Rossella Marcucci, Lorenzo Maroni, Giulia Massini, Elisa Mazza, Elena Melchioda, Giancarla Meregalli, Ilenia Minicocci, Simona Moffa, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Emanuele Alberto Negri, Serena Notargiacomo, Filippo Maria Panfili, Gianfranco Parati, Angelina Passaro, Chiara Pavanello, Valerio Pecchioli, Lorenzo Pecchioli, Fabio Pellegatta, Francesco Massimo Perla, Antonio Pipolo, Salvatore Piro, Matteo Pirro, Livia Pisciotta, Roberta Pujia, Carolina Putotto, Elena Repetti, Elisabetta Rinaldi, Alessandra Romandini, Elena Sani, Silvia Sarnari, Riccardo Sarzani, Francesco Sbrana, Roberto Scicali, Michele Scuruchi, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Pierandrea Vinci, José Pablo Werba, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti Atherosclerosis, 2023 BACKGROUND AND AIMS: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age. METHODS: From the Italian LIPIGEN cohort, we selected 1188 (≥18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation. RESULTS: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives. CONCLUSIONS: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age.
How to overcome barriers to the implementation of prevention and management strategies of atherosclerotic cardiovascular disease through lipid-lowering therapy M. Arca, Maurizio Averna, C. Borghi, M. Lettino, Pasquale Perrone Filardi, Antonia Alberti, Claudio Bilato, P. Calabrò, Francesca Carubbi, M. Ciccone, Francesco Cipollone, N. Citroni, Leonardo De Luca, Andrea Giaccari, Gabriella Iannuzzo, A. Maloberti, Rossella Marcucci, Pasquale Pignatelli Spinazzola, Matteo Pirro, Livia Pisciotta, Filippo Sarullo, A. Sciacqua, P. Suppressa, F. Varbella, J. Werba, Alberto Zambon Giornale Italiano Di Cardiologia, 2023 Atherosclerotic cardiovascular diseases remain the main cause of mortality worldwide, due to a poor control of modifiable risk factors for atherosclerosis. High levels of low-density lipoprotein cholesterol represent the most relevant actor in the development of atherosclerotic cardiovascular diseases, as well as the main target of prevention strategies. Although lipid-lowering treatments were shown to be effective for cardiovascular prevention, several barriers (e.g. clinician reluctance to prescribe an intensive treatment, poor adherence of patients to therapy, high pharmacotherapy burden of high-risk patients and the fear for adverse events potentially associated with statins) still prevent therapy optimization. Such issues will be addressed in this review article, taking into account possible strategies for their solution, through an integrated approach including both management interventions and a larger use of the available pharmacologic options.
Rationale and design of the CV-PREVITAL study: an Italian multiple cohort randomised controlled trial investigating innovative digital strategies in primary cardiovascular prevention Damiano Baldassarre, Licia Iacoviello, Roberta Baetta, Maria Carla Roncaglioni, Gianluigi Condorelli, Giuseppe Remuzzi, Gianfranco Gensini, Luigi Frati, Walter Ricciardi, Pier Giulio Conaldi, Antonio Uccelli, Fabio Blandini, Silvano Bosari, Giovanni Scambia, Massimo Fini, Antonio Di Malta, Mauro Amato, Fabrizio Veglia, Alice Bonomi, Catherine Klersy, Francesca Colazzo, Martino Pengo, Francesca Gorini, Luciana Auteri, Giuseppe Ferrante, Marta Baviera, Giuseppe Ambrosio, Alberico Catapano, Alessandro Gialluisi, Alexis Elias Malavazos, Serenella Castelvecchio, Massimiliano Marco Corsi-Romanelli, Rosanna Cardani, Maria Teresa La Rovere, Valentina Agnese, Bianca Pane, Daniele Prati, Laura Spinardi, Giovanna Liuzzo, Eloisa Arbustini, Maurizio Volterrani, Marco Visconti, José Pablo Werba, Stefano Genovese, Grzegorz Bilo, Cecilia Invitti, Anna Di Blasio, Carolina Lombardi, Andrea Faini, Debora Rosa, Luisa Ojeda-Fernández, Andreana Foresta, Amalia De Curtis, Augusto Di Castelnuovo, Simonetta Scalvini, Antonia Pierobon, Alessandra Gorini, Luca Valenti, Livio Luzi, Annarosa Racca, Manuela Bandi, Elena Tremoli, Lorenzo Menicanti, Gianfranco Parati, Giulio Pompilio BMJ Open, 2023
LDL-cholesterol control in the primary prevention of cardiovascular diseases: An expert opinion for clinicians and health professionals Andrea Poli, Alberico L. Catapano, Alberto Corsini, Enzo Manzato, José Pablo Werba, Gabriele Catena, Irene Cetin, Arrigo F.G. Cicero, Andrea Cignarella, Furio Colivicchi, Agostino Consoli, Francesco Landi, Maurizio Lucarelli, Dario Manfellotto, Walter Marrocco, Damiano Parretti, Pasquale Perrone Filardi, Angela Pirillo, Giorgio Sesti, Massimo Volpe, Franca Marangoni Nutrition Metabolism and Cardiovascular Diseases, 2023
Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra, Stefano Bertolini, Alberico L. Catapano, Manuela Casula, Marcello Arca, Laura D’Erasmo, Maurizio Averna, Angelo Baldassare Cefalù, Andrea Bartuli, Paola Sabrina Buonuomo, Andrea Benso, Guglielmo Beccuti, Giacomo Biasucci, Maria Elena Capra, Gianni Biolo, Pierandrea Vinci, Luca Bonanni, Claudio Borghi, Sergio D’Addato, Antonio Carlo Bossi, Giancarla Meregalli, Adriana Branchi, Paolo Calabrò, Francesca Carubbi, Fabio Nascimbeni, Francesco Cipollone, Marco Bucci, Nadia Citroni, Maria Del Ben, Francesco Baratta, Massimo Federici, Martina Montagna, Claudio Ferri, Serena Notargiacomo, Anna Maria Fiorenza, Emanuela Colombo, Giuliana Fortunato, Maria Donata Di Taranto, Andrea Giaccari, Simona Moffa, Francesco Giorgino, Sergio Di Molfetta, Ornella Guardamagna, Luisa De Sanctis, Arcangelo Iannuzzi, Raimondo Cavallaro, Gabriella Iannuzzo, Marco Gentile, Lorenzo Iughetti, Patrizia Bruzzi, Salvatore Lia, Alessandro Lupi, Giuseppe Mandraffino, Arianna Toscano, Rossella Marcucci, Martina Berteotti, Lorenzo Maroni, Fabiana Locatelli, Tiziana Montalcini, Giuliana Mombelli, Sandro Muntoni, Davide Baldera, Gianfranco Parati, Angelina Passaro, Valerio Pecchioli, Cristina Pederiva, Giuseppe Banderali, Antonio Pipolo, Debora D’Elia, Matteo Pirro, Vanessa Bianconi, Livia Pisciotta, Elena Formisano, Francesco Purrello, Roberto Scicali, Elena Repetti, Elena Cantino, Elisabetta Rinaldi, Elena Sani, Riccardo Sarzani, Francesco Spannella, Francesco Sbrana, Beatrice Dal Pino, Patrizia Suppressa, Veronica Cocco, Chiara Trenti, Emanuele Alberto Negri, Josè Pablo Werba, Alessandra Romandini, Sabina Zambon, Alberto Zambon, Maria Grazia Zenti, Giulia Fainelli, Fabio Pellegatta, Liliana Grigore, Katia Bonomo, Eleonora Capatti, Ada Cutolo, Fabio Fimiani, Simonetta Genovesi, Sandro Inchiostro, Chiara Pavanello, Roberta Pujia, Alon Schaffer, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Manuela Casula, Elena Olmastroni, Patrizia Tarugi, Marta Gazzotti, Federica Galimberti Journal of the American Heart Association, 2023
Long-term secondary cardiovascular prevention programme in patients subjected to coronary artery bypass surgery José Pablo Werba, Alice Bonomi, Monica Giroli, Manuela Amato, Lorenzo Vigo, Marco Agrifoglio, Francesco Alamanni, Laura Cavallotti, Samer Kassem, Moreno Naliato, Alessandro Parolari, Eleonora Penza, Gianluca Polvani, Giulio Pompilio, Massimo Porqueddu, Maurizio Roberto, Stefano Salis, Marco Zanobini, Mauro Amato, Damiano Baldassarre, Fabrizio Veglia, Elena Tremoli European Journal of Preventive Cardiology, 2022
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Antonio J. Vallejo-Vaz, Christophe A.T. Stevens, Alexander R.M. Lyons, Kanika I. Dharmayat, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Frederick J. Raal, Raul D. Santos, Handrean Soran, Gerald F. Watts, Marianne Abifadel, Carlos A. Aguilar-Salinas, Khalid F. Alhabib, Mutaz Alkhnifsawi, Wael Almahmeed, Fahad Alnouri, Rodrigo Alonso, Khalid Al-Rasadi, Ahmad Al-Sarraf, Nasreen Al-Sayed, Francisco Araujo, Tester F. Ashavaid, Maciej Banach, Sophie Béliard, Marianne Benn, Christoph J. Binder, Martin P. Bogsrud, Mafalda Bourbon, Krzysztof Chlebus, Pablo Corral, Kairat Davletov, Olivier S. Descamps, Ronen Durst, Marat Ezhov, Dan Gaita, Jacques Genest, Urh Groselj, Mariko Harada-Shiba, Kirsten B. Holven, Meral Kayikcioglu, Weerapan Khovidhunkit, Katarina Lalic, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Marcos M. Lima-Martinez, Jie Lin, Vincent Maher, A. David Marais, Winfried März, Erkin Mirrakhimov, André R. Miserez, Olena Mitchenko, Hapizah Nawawi, Børge G. Nordestgaard, Andrie G. Panayiotou, György Paragh, Zaneta Petrulioniene, Belma Pojskic, Arman Postadzhiyan, Katarina Raslova, Ashraf Reda, Željko Reiner, Fouzia Sadiq, Wilson Ehidiamen Sadoh, Heribert Schunkert, Aleksandr B. Shek, Mario Stoll, Erik Stroes, Ta-Chen Su, Tavintharan Subramaniam, Andrey V. Susekov, Myra Tilney, Brian Tomlinson, Thanh Huong Truong, Alexandros D. Tselepis, Anne Tybjærg-Hansen, Alejandra Vázquez Cárdenas, Margus Viigimaa, Luya Wang, Shizuya Yamashita, John J.P. Kastelein, Eric Bruckert, Branislav Vohnout, Laura Schreier, Jing Pang, Christoph Ebenbichler, Hans Dieplinger, Reinhold Innerhofer, Yvonne Winhofer-Stöckl, Susanne Greber-Platzer, Konstantin Krychtiuk, Walter Speidl, Hermann Toplak, Kurt Widhalm, Thomas Stulnig, Kurt Huber, Florian Höllerl, Gersina Rega-Kaun, Lucas Kleemann, Martin Mäser, Sabine Scholl-Bürgi, Christoph Säly, Florian J. Mayer, Gaelle Sablon, Eric Tarantino, Charlotte Nzeyimana, Lamija Pojskic, Ibrahim Sisic, Azra D. Nalbantic, Cinthia E. Jannes, Alexandre C. Pereira, Jose E. Krieger, Ivo Petrov, Assen Goudev, Fedya Nikolov, Snejana Tisheva, Yoto Yotov, Ivajlo Tzvetkov, Alexis Baass, Jean Bergeron, Sophie Bernard, Diane Brisson, Liam R. Brunham, Lubomira Cermakova, Patrick Couture, Gordon A. Francis, Daniel Gaudet, Robert A. Hegele, Etienne Khoury, G.B. John Mancini, Brian W. McCrindle, Martine Paquette, Isabelle Ruel, Ada Cuevas, Sylvia Asenjo, Xumin Wang, Kang Meng, Xiantao Song, Qiang Yong, Tao Jiang, Ziyou Liu, Yanyu Duan, Jing Hong, Pucong Ye, Yan Chen, Jianguang Qi, Zesen Liu, Yuntao Li, Chaoyi Zhang, Jie Peng, Ya Yang, Wei Yu, Qian Wang, Hui Yuan, Shitong Cheng, Long Jiang, Mei Chong, Jian Jiao, Yue Wu, Wenhui Wen, Liyuan Xu, Ruiying Zhang, Yichen Qu, Jianxun He, Xuesong Fan, Zhenjia Wang, Elaine Chow, Ivan Pećin, Dražen Perica, Phivos Symeonides, Michal Vrablik, Richard Ceska, Vladimir Soska, Lukas Tichy, Vera Adamkova, Jana Franekova, Renata Cifkova, Pavel Kraml, Katerina Vonaskova, Jana Cepova, Magdalena Dusejovska, Lenka Pavlickova, Vladimir Blaha, Hana Rosolova, Barbora Nussbaumerova, Roman Cibulka, Helena Vaverkova, Lubica Cibickova, Zdenka Krejsova, Katerina Rehouskova, Pavel Malina, Milena Budikova, Vaclava Palanova, Lucie Solcova, Alena Lubasova, Helena Podzimkova, Juraj Bujdak, Jiri Vesely, Marta Jordanova, Tomas Salek, Robin Urbanek, Stanislav Zemek, Jan Lacko, Hana Halamkova, Sona Machacova, Sarka Mala, Eva Cubova, Katerina Valoskova, Lukas Burda, Ahmed Bendary, Ihab Daoud, Sameh Emil, Atef Elbahry, Samir Rafla, Osama Sanad, Ghada Kazamel, Mohamed Ashraf, Mohamed Sobhy, Amro El-Hadidy, Mohamed A. Shafy, Saif Kamal, Mohamed Bendary, Grete Talviste, Denis Angoulvant, Franck Boccara, Bertrand Cariou, Valérie Carreau, Alain Carrie, Sybil Charrieres, Yves Cottin, Mathilde Di-Fillipo, Pierre H. Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Emile Ferrari, Dorota Ferrieres, Jean Ferrieres, Antonio Gallo, Regis hankard, Jocelyne Inamo, Julie Lemale, Philippe Moulin, François Paillard, Noel Peretti, Agnès Perrin, Alain Pradignac, Jean P. Rabes, Vincent Rigalleau, Ariane Sultan, François Schiele, Patrick Tounian, René Valero, Bruno Verges, Cécile Yelnik, Olivier Ziegler, Ira A. Haack, Nina Schmidt, Alexander Dressel, Isabel Klein, Jutta Christmann, Antonia Sonntag, Christine Stumpp, Diana Boger, Dana Biedermann, Monica M.N. Usme, F. Ulrich Beil, Gerald Klose, Christel König, Ioanna Gouni-Berthold, Britta Otte, Gereon Böll, Anja Kirschbaum, Jürgen Merke, Johannes Scholl, Thomas Segiet, Marco Gebauer, Florentina Predica, Manfred Mayer, Frank Leistikow, Sabine Füllgraf-Horst, Cornelius Müller, Melanie Schüler, Judith Wiener, Konrad Hein, Peter Baumgartner, Stefan Kopf, Reinhold Busch, Michael Schömig, Stephan Matthias, Nicole Allendorf-Ostwald, Bruno Fink, Dieter Böhm, Alexander Jäkel, Ann-Cathrin Koschker, Rüdiger Schweizer, Anja Vogt, Klaus Parhofer, Wolfgang König, Wibke Reinhard, Andrea Bäßler, Alexander Stadelmann, Volker Schrader, Julius Katzmann, Adrienne Tarr, Elisabeth Steinhagen-Thiessen, Ursula Kassner, Gerret Paulsen, Jürgen Homberger, Claudia Zemmrich, Wolfgang Seeger, Kathrin Biolik, Dorothee Deiss, Corinna Richter, Elina Pantchechnikova, Elena Dorn, Ulrike Schatz, Ulrich Julius, Antje Spens, Tobias Wiesner, Michael Scholl, Christos V. Rizos, Nikolaos Sakkas, Moses Elisaf, Ioannis Skoumas, Konstantinos Tziomalos, Loukianos Rallidis, Vasileios Kotsis, Michalis Doumas, Vasileios Athyros, Emmanouil Skalidis, Genovefa Kolovou, Anastasia Garoufi, Eleni Bilianou, Iosif Koutagiar, Dimitrios Agapakis, Estela Kiouri, Christina Antza, Niki Katsiki, Evangelos Zacharis, Achilleas Attilakos, George Sfikas, Charalambos Koumaras, Panagiotis Anagnostis, Georgia Anastasiou, George Liamis, Amalia-Despoina Koutsogianni, Zsolt Karányi, Mariann Harangi, László Bajnok, Mária Audikovszky, László Márk, Béla Benczúr, István Reiber, Gergely Nagy, András Nagy, Lakshmi L. Reddy, Swarup A.V. Shah, Chandrashekhar K. Ponde, Jamshed J. Dalal, Jitendra P.S. Sawhney, Ishwar C. Verma, Mays Altaey, Khalid Al-Jumaily, Dilshad Rasul, Ali F. Abdalsahib, Amer A. Jabbar, Mohanad Al-ageedi, Ruth Agar, Hofit Cohen, Avishay Ellis, Dov Gavishv, Dror Harats, Yaacov Henkin, Hila Knobler, Leah Leavit, Eran Leitersdorf, Ardon Rubinstein, Daniel Schurr, Shoshi Shpitzen, Auryan Szalat, Manuela Casula, Veronica Zampoleri, Marta Gazzotti, Elena Olmastroni, Riccardo Sarzani, Claudio Ferri, Elena Repetti, Carlo Sabbà, Antonio Carlo Bossi, Claudio Borghi, Sandro Muntoni, Francesco Cipollone, Francesco Purrello, Arturo Pujia, Angelina Passaro, Rossella Marcucci, Valerio Pecchioli, Livia Pisciotta, Giuseppe Mandraffino, Fabio Pellegatta, Giuliana Mombelli, Adriana Branchi, Anna Maria Fiorenza, Cristina Pederiva, Josè Pablo Werba, Gianfranco Parati, Francesca Carubbi, Lorenzo Iughetti, Arcangelo Iannuzzi, Gabriella Iannuzzo, Paolo Calabrò, Maurizio Averna, Giacomo Biasucci, Sabina Zambon, Anna Rita Roscini, Chiara Trenti, Marcello Arca, Massimo Federici, Maria Del Ben, Andrea Bartuli, Andrea Giaccari, Antonio Pipolo, Nadia Citroni, Ornella Guardamagna, Katia Bonomo, Andrea Benso, Gianni Biolo, Lorenzo Maroni, Alessandro Lupi, Luca Bonanni, Maria Grazia Zenti, Kota Matsuki, Mika Hori, Masatsune Ogura, Daisaku Masuda, Takuya Kobayashi, Kumiko Nagahama, Mohammed Al-Jarallah, Mirjana Radovic, Olga Lunegova, Erkayim Bektasheva, Elyor Khodzhiboboev, Andrejs Erglis, Dainus Gilis, Georgijs Nesterovics, Vita Saripo, Ruta Meiere, Arta Upena-RozeMicena, Elizabete Terauda, Selim Jambart, Petra E. Khoury, Sandy Elbitar, Carine Ayoub, Youmna Ghaleb, Urte Aliosaitiene, Sandra Kutkiene, Noor A.M. Kasim, Noor S.M. Nor, Anis S. Ramli, Suraya A. Razak, Alyaa Al-Khateeb, Siti H.S.A. Kadir, Suhaila A. Muid, Thuhairah A. Rahman, Sazzli S. Kasim, Ahmad B.M. Radzi, Khairul S. Ibrahim, Salmi Razali, Zaliha Ismail, Rohana A. Ghani, Muhammad I.A. Hafidz, Ang L. Chua, Marshima M. Rosli, Muthukkaruppan Annamalai, Lay K. Teh, Rafezah Razali, Yung A. Chua, Azhari Rosman, Abdul R. Sanusi, Nor A.A. Murad, A. Rahman A. Jamal, Sukma A. Nazli, Aimi Z. Razman, Norhidayah Rosman, Radzi Rahmat, Nur S. Hamzan, C. Azzopardi, Roopa Mehta, Alexandro J. Martagon, Gabriela A.G. Ramirez, Neftali E.A. Villa, Arsenio V. Vazquez, Daniel Elias-Lopez, Gustavo G. Retana, Betsabel Rodriguez, Jose J.C. Macías, Alejandro R. Zazueta, Rocio M. Alvarado, Julieta D.M. Portano, Humberto A. Lopez, Leobardo Sauque-Reyna, Laura G.G. Herrera, Luis E.S. Mendia, Humberto Garcia Aguilar, Elizabeth R. Cooremans, Berenice P. Aparicio, Victoria M. Zubieta, Perla A.C. Gonzalez, Aldo Ferreira-Hermosillo, Nacu C. Portilla, Guadalupe J. Dominguez, Alinna Y.R. Garcia, Hector E.A. Cazares, Jesus R. Gonzalez, Carla V.M. Valencia, Francisco G. Padilla, Ramon M. Prado, Manuel O. De los Rios Ibarra, Ruy D.A. Villicaña, Karina J.A. Rivera, Ricardo A. Carrera, Jose A. Alvarez, Jose C.A. Martinez, Manuel de los Reyes Barrera Bustillo, Gonzalo C. Vargas, Roberto C. Chacon, Mario H.F. Andrade, Ashanty F. Ortega, Hector G. Alcala, Laura E.G. de Leon, Berenice G. Guzman, Jose J.G. Garcia, Juan C.G. Cuellar, Jose R.G. Cruz, Anell Hernandez Garcia, Jesus R.H. Almada, Ursulo J. Herrera, Fabiola L. Sobrevilla, Eduardo M. Rodriguez, Cristina M. Sibaja, Alma B.M. Rodriguez, Jose C.M. Oyervides, Daniel I.P. Vazquez, Eduardo A.R. Rodriguez, Ma L.R. Osorio, Juan R. Saucedo, Margarita T. Tamayo, Luis A.V. Talavera, Luis E.V. Arroyo, Eloy A.Z. Carrillo, Alphonsus Isara, Darlington E. Obaseki, Khalid Al-Waili, Fahad Al-Zadjali, Ibrahim Al-Zakwani, Mohammed Al-Kindi, Suad Al-Mukhaini, Hamida Al-Barwani, Asim Rana, Lahore S.U. Shah, Ewa Starostecka, Agnieszka Konopka, Joanna Lewek, Marcin Bartłomiejczyk, Mariusz Gąsior, Krzysztof Dyrbuś, Jacek Jóźwiak, Marcin Gruchała, Marcin Pajkowski, Marzena Romanowska-Kocejko, Marta Żarczyńska-Buchowiecka, Magdalena Chmara, Bartosz Wasąg, Aleksandra Parczewska, Natasza Gilis-Malinowska, Justyna Borowiec-Wolna, Aneta Stróżyk, Marlena Woś, Aleksandra Michalska-Grzonkowska, Ana M. Medeiros, Ana C. Alves, Francisco Silva, Goreti Lobarinhas, Isabel Palma, Jose P. de Moura, Miguel T. Rico, Quitéria Rato, Patrícia Pais, Susana Correia, Oana Moldovan, Maria J. Virtuoso, Jose M. Salgado, Ines Colaço, Andreea Dumitrescu, Calin Lengher, Svetlana Mosteoru, Alexey Meshkov, Alexandra Ershova, Tatiana Rozkova, Victoria Korneva, Kuznetsova T. Yu, Vitaliy Zafiraki, Mikhail Voevoda, Victor Gurevich, Dmitry Duplyakov, Yulia Ragino, Maya Safarova, Igor Shaposhnik, Fahmi Alkaf, Alia Khudari, Nawal Rwaili, Faisal Al-Allaf, Mohammad Alghamdi, Mohammed A. Batais, Turky H. Almigbal, Abdulhalim Kinsara, Ashraf H.A. AlQudaimi, Zuhier Awan, Omer A. Elamin, Hani Altaradi, Natasa Rajkovic, Ljiljana Popovic, Sandra Singh, Ljubica Stosic, Iva Rasulic, Nebojsa M. Lalic, Carolyn Lam, Tan J. Le, Eric L.T. Siang, Sanjaya Dissanayake, Justin T. I-Shing, Tai E. Shyong, Terrance C.S. Jin, Karin Balinth, Ingrid Buganova, Lubomira Fabryova, Michaela Kadurova, Alexander Klabnik, Miriam Kozárová, Jana Sirotiakova, Tadej Battelino, Jernej Kovac, Matej Mlinaric, Ursa Sustar, Katarina T. Podkrajsek, Zlatko Fras, Borut Jug, Matija Cevc, Gillian J. Pilcher, D.J. Blom, K.H. Wolmarans, B.C. Brice, Ovidio Muñiz-Grijalvo, Jose L. Díaz-Díaz, Leopoldo P. de Isla, Francisco Fuentes, Lina Badimon, François Martin, Angela Lux, Nien-Tzu Chang, Poranee Ganokroj, Mehmet Akbulut, Gökhan Alici, Fahri Bayram, Levent H. Can, Ahmet Celik, Ceyhun Ceyhan, Fatma Y. Coskun, Mesut Demir, Sabri Demircan, Volkan Dogan, Emre Durakoglugil, Ibrahim E. Dural, Omer Gedikli, Aysa Hacioglu, Muge Ildizli, Salih Kilic, Bahadir Kirilmaz, Merih Kutlu, Aytekin Oguz, Oner Ozdogan, Ersel Onrat, Savas Ozer, Tevfik Sabuncu, Tayfun Sahin, Fatih Sivri, Alper Sonmez, Ahmet Temizhan, Selim Topcu, Abdullah Tuncez, Mirac Vural, Mustafa Yenercag, Dilek Yesilbursa, Zerrin Yigit, Aytul B. Yildirim, Aylin Yildirir, Mehmet B. Yilmaz, Bassam Atallah, Mahmoud Traina, Hani Sabbour, Dana A. Hay, Neama Luqman, Abubaker Elfatih, Arshad Abdulrasheed, See Kwok, Nicolas D. Oca, Ximena Reyes, Rano B. Alieva, Ravshanbek D. Kurbanov, Shavkat U. Hoshimov, Ulugbek I. Nizamov, Adolat V. Ziyaeva, Guzal J. Abdullaeva, Doan L. Do, Mai N.T. Nguyen, Ngoc T. Kim, Thanh T. Le, Hong A. Le, Lale Tokgozoglu, Alberico L. Catapano, Kausik K. Ray Lancet, 2021
Reported muscle symptoms during statin treatment amongst Italian dyslipidaemic patients in the real-life setting: the PROSISA Study M. Casula, M. Gazzotti, F. Bonaiti, E. OImastroni, M. Arca, M. Averna, A. Zambon, A.L. Catapano, Marcello Arca, Anna Montali, Maurizio Averna, Antonina Giammanco, Gianni Biolo, Pierandrea Vinci, Claudio Borghi, Sergio D’Addato, Antonio Carlo Bossi, Giancarla Meregalli, Adriana Branchi, Giovanna Squiccimarro, Franco Cavalot, Linda Ramadori, Francesco Cipollone, Marco Bucci, Maria Del Ben, Francesco Angelico, Anna Maria Fiorenza, Emanuela Colombo, Liliana Grigore, Veronica Zampoleri, Graziana Lupattelli, Vito Gandolfo, Giuseppe Mandraffino, Francesca Savarino, Giuliana Mombelli, Chiara Pavanello, Livia Pisciotta, Andrea Pasta, Francesco Purrello, Roberto Scicali, Paolo Rubba, Giuliana Fortunato, Carlo Sabbà, Patrizia Suppressa, Riccardo Sarzani, Chiara Di Pentima, Giovanni Battista Vigna, Angela Colangiulo, Josè Pablo Werba, Lorenzo Maria Vigo, Sabina Zambon, Lorenzo Previato, Maria Grazia Zenti, Chiara Maneschi, and Journal of Internal Medicine, 2021
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study Manuela Casula, Elena Olmastroni, Angela Pirillo, Alberico Luigi Catapano, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea Bartuli, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Katia Bonomo, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Francesca Carubbi, Francesco Cipollone, Nadia Citroni, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Andrea Giaccari, Francesco Giorgino, Ornella Guardamagna, Arcangelo Iannuzzi, Lorenzo Iughetti, Graziana Lupattelli, Alessandro Lupi, Giuseppe Mandraffino, Rossella Marcucci, Lorenzo Maroni, Roberto Miccoli, Giuliana Mombelli, Sandro Muntoni, Valerio Pecchioli, Cristina Pederiva, Antonio Pipolo, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elena Repetti, Paolo Rubba, Carlo Sabbà, Tiziana Sampietro, Riccardo Sarzani, Milena Paola Tagliabue, Chiara Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina Zambon, Maria Grazia Zenti, Ilenia Minicocci, Davide Noto, Stefano Bertolini, Sebastiano Calandra, Giuliana Fortunato, Giuseppe Banderali, Andrea Benso, Paola Bigolin, Enzo Bonora, Patrizia Bruzzi, Marco Bucci, Paola Sabrina Buonuomo, Maria Elena Capra, Iris Cardolini, Baldassarre Cefalù, Nazzareno Cervelli, Giuseppe Chiariello, Guido Cocci, Emanuela Colombo, Anna Laura Cremonini, Sergio D'Addato, Laura D'Erasmo, Beatrice Dal Pino, Luisa De Sanctis, Emanuele De Vita, Maria Del Ben, Alessia Di Costanzo, Maria Donata Di Taranto, Tommaso Fasano, Luigi Gentile, Marco Gentile, Omar Ghirardello, Liliana Grigore, Milena Lussu, Giancarla Meregalli, Simona Moffa, Tiziana Montalcini, Valeria Morgia, Fabio Nascimbeni, Andrea Pasta, Chiara Pavanello, Antonino Saitta, Roberto Scicali, Donatella Siepi, Walter Spagnolli, Rossella Spina, Elena Sticchi, Patrizia Suppressa, Patrizia Tarugi, Lorenzo Vigo, Pierandrea Vinci, Alberico Luigi Catapano, Manuela Casula, Enzo Manzato, Elena Olmastroni, Elena Tragni, Veronica Zampoleri Atherosclerosis, 2018
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) Maurizio Averna, Angelo B. Cefalù, Manuela Casula, Davide Noto, Marcello Arca, Stefano Bertolini, Sebastiano Calandra, Alberico L. Catapano, Patrizia Tarugi, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea Bartuli, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Katia Bonomo, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Francesca Carubbi, Francesco Cipollone, Nadia Citroni, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Andrea Giaccari, Francesco Giorgino, Ornella Guardamagna, Arcangelo Iannuzzi, Lorenzo Iughetti, Graziana Lupattelli, Giuseppe Mandraffino, Rossella Marcucci, Giuliana Mombelli, Sandro Muntoni, Valerio Pecchioli, Cristina Pederiva, Antonio Pipolo, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elena Repetti, Paolo Rubba, Carlo Sabbà, Tiziana Sampietro, Riccardo Sarzani, Milena Paola Tagliabue, Chiara Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina Zambon, Maria Grazia Zenti, Anna Montali, Davide Noto, Stefano Bertolini, Sebastiano Calandra, Giuliana Fortunato, Liliana Grigore, Maria Del Ben, Marianna Maranghi, Angelo B. Cefalù, Carlo M. Barbagallo, Paola Sabrina Buonuomo, Maria Elena Capra, Pierandrea Vinci, Sergio D'Addato, Stella Galbiati, Fabio Nascimbeni, Marco Bucci, Walter Spagnoli, Iris Cardolini, Nazzareno Cervelli, Colombo Emanuela, A. Sun Vinsin, Luigi Laviola, Francesca Bello, Giuseppe Chiariello, Barbara Predieri, Donatella Siepi, Antonino Saitta, Betti Giusti, Chiara Pavanello, Milena Lussu, Lucia Prati, Giuseppe Banderali, Giulia Balleari, Tiziana Montalcini, Roberto Scicali, Luigi Gentile, Marco Gentile, Patrizia Suppressa, Francesco Sbrana, Guido Cocci, Andrea Benso, Emanuele Alberto Negri, Omar Ghirardello, Vigo Lorenzo, Alberto Zambon, Bonora Enzo, Ilenia Minicocci, Rossella Spina, Camilla Orlando, Patrizia Tarugi, Maria Donata Di Taranto, Alberico Luigi Catapano, Manuela Casula, Lorenzo Chiodo, Katia Garlaschelli, Enzo Manzato, Elena Tragni Atherosclerosis Supplements, 2017
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study Angela Pirillo, Katia Garlaschelli, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Alberico L. Catapano, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea Bartuli, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Katia Bonomo, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Francesca Carubbi, Francesco Cipollone, Nadia Citroni, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Andrea Giaccari, Francesco Giorgino, Ornella Guardamagna, Arcangelo Iannuzzi, Lorenzo Iughetti, Graziana Lupattelli, Giuseppe Mandraffino, Rossella Marcucci, Giuliana Mombelli, Sandro Muntoni, Valerio Pecchioli, Cristina Pederiva, Antonio Pipolo, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elena Repetti, Paolo Rubba, Carlo Sabbà, Tiziana Sampietro, Riccardo Sarzani, Milena Paola Tagliabue, Chiara Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina Zambon, Maria Grazia Zenti, Anna Montali, Davide Noto, Stefano Bertolini, Sebastiano Calandra, Giuliana Fortunato, Liliana Grigore, Maria Del Ben, Marianna Maranghi, A. Baldassarre Cefalù, Paola Sabrina Buonuomo, Maria Elena Capra, Pierandrea Vinci, Sergio D'Addato, Stella Galbiati, Fabio Nascimbeni, Marco Bucci, Walter Spagnoli, Iris Cardolini, Nazzareno Cervelli, Colombo Emanuela, Vinsin A. Sun, Luigi Laviola, Francesca Bello, Giuseppe Chiariello, Barbara Predieri, Donatella Siepi, Antonino Saitta, Betti Giusti, Chiara Pavanello, Milena Lussu, Lucia Prati, Giuseppe Banderali, Giulia Balleari, Tiziana Montalcini, Roberto Scicali, Luigi Gentile, Marco Gentile, Patrizia Suppressa, Francesco Sbrana, Guido Cocci, Andrea Benso, Emanuele Alberto Negri, Omar Ghirardello, Vigo Lorenzo, Alberto Zambon, Bonora Enzo, Ilenia Minicocci, Rossella Spina, Camilla Orlando, Patrizia Tarugi, Maria Donata Di Taranto, Alberico Luigi Catapano, Manuela Casula, Lorenzo Chiodo, Katia Garlaschelli, Enzo Manzato, Elena Tragni Atherosclerosis Supplements, 2017
BDNFVal66met polymorphism: A potential bridge between depression and thrombosis Patrizia Amadio, Gualtiero I. Colombo, Eva Tarantino, Sara Gianellini, Alessandro Ieraci, Maura Brioschi, Cristina Banfi, José P. Werba, Alessandro Parolari, Francis S. Lee, Elena Tremoli, Silvia S. Barbieri European Heart Journal, 2017
Antioxidant enzymes and bioavailability of nitric oxide in a model of renovascular hypertension Prensa Medica Argentina, 2006
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent Angelo Cefalù, Giacoma Barraco, Davide Noto, Vincenza Valenti, Carlo Barbagallo, Gerardo Elisir, Luis Cuniberti, José Werba, Massimo Libra, Salvatore Costa, Fabrizio Gianguzza, Alberto Notarbartolo, Salvatore Travali, Maurizio Averna International Journal of Molecular Medicine, 2006
Repeatability of insulin sensitivity estimation using the Minimal and Model and comparison with a modified short low-dose insulin tolerance test Medicina, 1996
