High burden of disease in patients with homozygous familial hypercholesterolemia despite recent advances in therapies and updated guidelines: A real-world study.

Abstract

Background: Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare disorder of lipid metabolism characterized by markedly increased levels of low-density lipoprotein cholesterol (LDL-C), leading to an increased risk of early onset atherosclerotic cardiovascular disease (ASCVD) and premature death.

Objective: To assess the real-world burden of disease for patients with HoFH using healthcare claims data.

Methods: Due to the lack of International Classification of Diseases, Tenth Revision diagnosis codes for HoFH, the real-world HoFH cohort was formed using two sources: prescription claims for evinacumab or lomitapide in the Komodo Healthcare Map™ database; and patients with a physician-confirmed HoFH diagnosis in MyRARE^Ⓡ, a US-based patient support program for commercially available evinacumab. Patients in MyRARE were identified via tokenization and linked with their Komodo claims data.

Results: The real-world cohort comprised 331 patients with HoFH. Mean age was 53.3 years, and 66.8% had a formal diagnosis of familial hypercholesterolemia. Most patients (67.4%) had ASCVD, including 63.4% with coronary heart disease. The most recent mean LDL-C value was 163 mg/dL, and 52.9% of patients had been treated with at least two concomitant lipid-lowering therapies.

Conclusion: This real-world study showed that patients with HoFH are undertreated, resulting in suboptimal control of LDL-C levels and a high prevalence of ASCVD.