Title Global survey of genetic testing methods for familial hypercholesterolaemia: a study and recommendations from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration registry
Authors Chora, Joana Rita ; Karungi, Irene ; Elshorbagy, Amany ; Stevens, Christophe A T ; Vallejo-Vaz, Antonio J ; Dharmayat, Kanika I ; Abifadel, Marianne ; Aguilar-Salinas, Carlos A ; Alhabib, Khalid F ; Almahmeed, Wael ; Alnouri, Fahad ; Alonso, Rodrigo ; Al-Rasadi, Khalid ; Al-Sarraf, Ahmad ; Arca, Marcello ; Ashaat, Engy A ; Ashavaid, Tester F ; Averna, Maurizio ; Banach, Maciej ; Becker, Marianne ; Binder, Christoph J ; Brunham, Liam R ; Catapano, Alberico L ; Corral, Pablo ; Descamps, Olivier S ; Drogari, Euridiki ; Durst, Ronen ; Ezhov, Marat ; Groselj, Urh ; Harada-Shiba, Mariko ; Holven, Kirsten B ; Hovingh, G Kees ; Khovidhunkit, Weerapan ; Lalic, Katarina ; Latkovskis, Gustavs ; Laufs, Ulrich ; Liberopoulos, Evangelos ; Lin, Jie ; März, Winfried ; Mata, Pedro ; Matthias, Anne Thushara ; Miserez, André R ; Mitchenko, Olena ; Nawawi, Hapizah Mohd ; Nordestgaard, Børge G ; Panayiotou, Andrie G ; Paragh, György ; Petrulionienė, Žaneta ; Postadzhiyan, Arman ; Reyes, Ximena ; Sadiq, Fouzia ; Sahebkar, Amirhossein ; Santos, Raul D ; Sawhney, J P S ; Schunkert, Heribert ; Shah, Swarup A V ; Shek, Aleksandr B ; Soran, Handrean ; Su, Ta-Chen ; Subramaniam, Tavintharan ; Tilney, Myra ; Tomlinson, Brian ; Truong, Thanh Huong ; Tybjærg-Hansen, Anne ; Viigimaa, Margus ; Vohnout, Branislav ; Watts, Gerald F ; Yamashita, Shizuya ; Ray, Kausik K ; Raal, Frederick J ; Humphries, Steve E ; Freiberger, Tomas ; Bourbon, Mafalda ; Stevens, Christophe A. T ; Vallejo-Vaz, Antonio J ; Dharmayat, Kanika, I ; Aguilar-Salinas, Carlos A ; Alhabib, Khalid F ; Ashaat, Engy A ; Ashavaid, Tester F ; Binder, Christoph J ; Brunham, Liam R ; Catapano, Alberico L ; Descamps, Olivier S ; Holven, Kirsten B ; Hovingh, G. Kees ; Miserez, Andre R ; Nordestgaard, Borge G ; Panayiotou, Andrie G ; Santos, Raul D ; Sawhney, J. P. S ; Shah, Swarup A., V ; Shek, Aleksandr B ; Tybjaerg-Hansen, Anne ; Watts, Gerald F ; Ray, Kausik K ; Raal, Frederick J ; Humphries, Steve E
DOI 10.1093/eurjpc/zwag198
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Is Part of European journal of preventive cardiology.. Oxford : Oxford University Press. 2026, Early Access, p. [1-14].. ISSN 2047-4873. eISSN 2047-4881
Keywords [eng] genetic testing ; familial hypercholesterolaemia ; genetics ; pathogenicity interpretation ; global standardization
Abstract [eng] Familial hypercholesterolaemia (FH), primarily caused by pathogenic LDLR, APOB, or PCSK9 variants, results in elevated LDL cholesterol and increased cardiovascular risk. Genetic testing offers the definitive diagnosis, yet global approaches to FH genetic testing remain unstandardized. We investigate current testing practices worldwide and provide relevant recommendations.
Published Oxford : Oxford University Press
Type Journal article
Language English
Publication date 2026
CC license CC license description