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Worldwide experience of homozygous familial hypercholesterolaemia: Retrospective cohort study

The Lancet Feb 02, 2022

Globally, homozygous familial hypercholesterolemia (HoFH) cases are diagnosed too late, undertreated, and carry a high premature atherosclerotic cardiovascular disease (ASCVD) risk. Findings showed both lower LDL cholesterol levels and better outcomes in relation to greater use of multi-lipid-lowering therapies (LLT) regimens. Presence of significant global disparities in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival call for a critical reassessment of global health policy to decrease inequalities and enhance outcomes for all patients with HoFH.

  • Researchers examined clinical and genetic features, as well as the effect, of current practice on health outcomes of HoFH patients globally, using the HoFH International Clinical Collaborators registry.

  • In 751 patients from 38 countries (75% with biallelic pathogenic variants), median age of diagnosis was 12·0 years, 52% were female and 362 (48%) were male.

  • In 65 (9%) of patients, major manifestations of ASCVD or aortic stenosis already existed at diagnosis of HoFH.

  • Worldwide, pretreatment LDL cholesterol concentrations were 14·7 mmol/L (IQR 11·6–18·4).

  • Statins, ezetimibe, and lipoprotein apheresis were employed in 92%, 64%, and 39% of the patients with detailed therapeutic information.

  • High-income countries, vs non-high-income ones, showed lower on-treatment LDL cholesterol levels (3·93 mmol/L vs 9·3 mmol/L), with greater use of three or more LLT (66% vs 24%) and consequently more patients achieving guideline-recommended LDL cholesterol goals (21% vs 3%).

  • In non-high-income countries, a first major adverse cardiovascular event was experienced a decade earlier, at a median age of 24·5 years (IQR 17·0–34·5) vs 37·0 years (29·0–49·0) in high-income countries (adjusted hazard ratio 1·64).

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