Publication details

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Authors	VALLEJO-VAZ Antonio J. STEVENS Christophe A. T. LYONS Alexander R. M. DHARMAYAT Kanika I. FREIBERGER Tomáš HOVINGH G Kees MATA Pedro RAAL Frederick J. SANTOS Raul D. SORAN Handrean WATTS Gerald F. ABIFADEL Marianne AGUILAR-SALINAS Carlos A. ALHABIB Khalid F. ALKHNIFSAWI Mutaz ALMAHMEED Wael ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid AL-SARRAF Ahmad AL-SAYED Nasreen ARAUJO Francisco ASHAVAID Tester F. BANACH Maciej BÉLIARD Sophie BENN Marianne BINDER Christoph J. BOGSRUD Martin P. BOURBON Mafalda CHLEBUS Krzysztof CORRAL Pablo DAVLETOV Kairat DESCAMPS Olivier S. DURST Ronen EZHOV Marat GAITA Dan GENEST Jacques GROSELJ Urh HARADA-SHIBA Mariko HOLVEN Kirsten B KAYIKCIOGLU Meral KHOVIDHUNKIT Weerapan LALIC Katarina LATKOVSKIS Gustavs LAUFS Ulrich LIBEROPOULOS Evangelos LIMA-MARTINEZ Marcos M. LIN Jie MAHER Vincent MARAIS David MÄRZ Winfried MIRRAKHIMOV Erkin MISEREZ André R. MITCHENKO Olena NAWAWI Hapizah NORDESTGAARD Borge G. PANAYIOTOU Andrie G. PARAGH György PETRULIONIENE Zaneta POJSKIC Belma POSTADZHIYAN Arman RASLOVA Katarina REDA Ashraf REINER Željko SADIQ Fouzia SADOH Wilson Ehidiamen SCHUNKERT Heribert SHEK Aleksandr B. STOLL Mario STROES Erik SU Ta-Chen SUBRAMANIAM Tavintharan SUSEKOV Andrey V. TILNEY Myra TOMLINSON Brian TRUONG Thanh Huong TSELEPIS Alexandros D. TYBJARG-HANSEN Anne CÁRDENAS Alejandra Vázquez VIIGIMAA Margus WANG Luya YAMASHITA Shizuya TOKGOZOGLU Lale CATAPANO Alberico L. RAY Kausik K.
Year of publication	2021
Type	Article in Periodical
Magazine / Source	Lancet
MU Faculty or unit	Faculty of Medicine
Citation
Web	https://www.sciencedirect.com/science/article/pii/S0140673621011223?via%3Dihub
Doi	http://dx.doi.org/10.1016/S0140-6736(21)01122-3
Keywords	familial hypercholesterolaemia; global perspective
Description	Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases. Findings Of the 61 612 individuals in the registry, 42 167 adults (21 999 [53.6%] women) from 56 countries were included in the study. Of these, 31 798 (75.4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84.2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46.2 years (IQR 34.3-58.0); median age at diagnosis of familial hypercholesterolaemia was 44.4 years (32.5-56.5), with 40.2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17.4% (2.1% for stroke and 5.2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81.1%) were receiving statins and 3691 (21.2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol was 5.43 mmol/L (IQR 4.32-6.72) among patients not taking lipid-lowering medications and 4.23 mmol/L (3.20-5.66) among those taking them. Among patients taking lipid-lowering medications, 2.7% had LDL cholesterol lower than 1.8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin-kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1.8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p<0.001). Interpretation Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia. Copyright (C) 2021 Elsevier Ltd. All rights reserved.