Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
Authors: 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
Journal: JAMA Cardiology (2024)

Homozygous 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.