Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.

作者：Janneke W. C. M. Mulder, T. Tromp, Mutaz Al-Khnifsawi, D. Blom, Krysztof Chlebus, Marina Cuchel, L. D'Erasmo, Antonio Gallo, G. Hovingh, N. Kim, Jiang-Lan Long, F. Raal, Willemijn A. M. Schonck, H. Soran, T. Truong, E. Boersma, Jeanine E. Roeters van Lennep · 发表于：JAMA cardiology · 年份：2024 · DOI：10.1001/jamacardio.2023.5597 · 被引用次数：32 · 研究领域：Medicine

Importance 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. Objective To investigate sex differences in age at diagnosis, risk factors, lipid-lowering treatment, and ASCVD morbidity and mortality in patients with HoFH. Design, Setting, and Participants Sex-specific analyses for this retrospective cohort study were performed using data from the HoFH International Clinical Collaborators (HICC) registry, the largest global dataset of patients with HoFH, spanning 88 institutions across 38 countries. Patients with HoFH who were alive during or after 2010 were eligible for inclusion. Data entry occurred between February 2016 and December 2020. Data were analyzed from June 2022 to June 2023. Main Outcomes and Measures Comparison between women and men with HoFH regarding age at diagnosis, presence of risk factors, lipid-lowering treatment, prevalence, and onset and incidence of ASCVD morbidity (myocardial infarction [MI], aortic stenosis, and combined ASCVD outcomes) and mortality. Results Data from 389 women and 362 men with HoFH from 38 countries were included. Women and men had similar age a...