TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY, Handrean SORAN, Tomáš FREIBERGER, Stefano BERTOLINI, Mariko HARADA-SHIBA, Dirk J. BLOM, Frederick J. RAAL and Marina CUCHEL. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. New York: Elsevier Science Inc., 2022, vol. 399, No 10326, p. 719-728. ISSN 0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(21)02001-8.
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Basic information
Original name Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
Authors TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY, Handrean SORAN, Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), Stefano BERTOLINI, Mariko HARADA-SHIBA, Dirk J. BLOM, Frederick J. RAAL and Marina CUCHEL (guarantor).
Edition Lancet, New York, Elsevier Science Inc. 2022, 0140-6736.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30218 General and internal medicine
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 168.900
RIV identification code RIV/00216224:14110/22:00126417
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1016/S0140-6736(21)02001-8
UT WoS 000758794200019
Keywords in English homozygous familial hypercholesterolaemia
Tags 14110114, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 11/8/2022 12:52.
Abstract
Background Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally. Methods The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005. Findings Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12.0 years (IQR 5.5-27.0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 ( 64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14.7 mmol/L (IQR 11.6-18.4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3.93 mmol/ L, IQR 2.6-5.8) versus non-highincome countries (9.3 mmol/ L, 6.7-12.7), with greater use of three or more lipid-lowering therapies (LLT; highincome 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high- income 21% vs non-high- income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24.5 years (IQR 17.0-34.5) versus 37.0 years (29.0-49.0) in high-income countries (adjusted hazard ratio 1.64, 95% CI 1.13-2.38). Interpretation Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH. Copyright (C) 2022 Published by Elsevier Ltd. All rights reserved.
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