Real-world data highlights gaps in HoFH treatment and cholesterol control

Patients with homozygous familial hypercholesterolemia (HoFH) remain undertreated, leading to poor low-density lipoprotein cholesterol (LDL-C) control and a high prevalence of atherosclerotic cardiovascular disease (ASCVD), despite the availability of lipid-lowering therapies, according to a study.

Due to the absence of specific diagnostic codes for HoFH, researchers identified patients through prescription claims for evinacumab or lomitapide in the Komodo Healthcare Map database and physician-confirmed cases from the MyRARE patient support program. By linking these data sources, they formed a cohort of 331 patients with HoFH.

The study found that the average patient age was 53.3 years, with 66.8% having a formal familial hypercholesterolemia diagnosis. ASCVD was prevalent in 67.4% of patients, with coronary heart disease affecting 63.4%. Despite treatment, the mean LDL-C level remained high at 163 mg/dL, and over half (52.9%) of patients required multiple lipid-lowering therapies.

These findings underscore that HoFH remains undertreated in clinical practice, contributing to poor cholesterol control and a high burden of cardiovascular disease.

Reference
Gu J, Ma X, Park J, et al. High burden of disease in patients with homozygous familial hypercholesterolemia despite recent advances in therapies and updated guidelines: A real-world study. J Clin Lipidol. 2025;S1933-2874(24)00275-7. doi: 10.1016/j.jacl.2024.11.004. Epub ahead of print. PMID: 39971631.