ArticleAmerican journal of preventive cardiology2026
Treatment patterns in homozygous familial hypercholesterolemia: Undertreatment and delayed adoption of low-density lipoprotein receptor-independent therapies.
Article in American journal of preventive cardiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Homozygous familial hypercholesterolemia (HoFH) is an ultrarare disease characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) and low-density lipoprotein receptor (LDLR) dysfunction, making most LDLR function-dependent lipid-lowering therapies (LLTs) less effective. For HoFH, LDLR-independent LLTs are usually required to meaningfully reduce LDL-C levels and atherosclerotic cardiovascular disease risk. Objective: To examine treatment patterns and pathways among people with HoFH. Methods: A retrospective HoFH cohort was formed using closed claims for evinacumab and lomitapide from the Komodo Healthcare Map® and confirmed diagnoses from myRARE®. myRARE data were de-identified and linked to the Komodo Healthcare Map. LLTs and apheresis at the index date (the last day of the most recent enrollment period) were used to describe contemporary treatment patterns among individuals with HoFH. A reverse Sankey plot described how LLT use evolved over time. Results: In the overall cohort, 15.9% (42/264) did not have LLT claims during the 6 months before and including the index date. At the index date, 42.8% (113/264) of individuals were dispensed LDLR-dependent LLTs only, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors, bempedoic acid, and bile acid sequestrants. Only 38.3% (101/264) of participants were dispensed LDLR‑independent pharmacotherapy (evinacumab/lomitapide). Nineteen individuals (7.2%) used apheresis with or without other LLTs. Over the 3 years before the index date, LDLR‑independent pharmacotherapy use increased (17.1% to 43.2%); use of LDLR-dependent LLTs decreased slightly (49.2% to 40.5%). Conclusion: In the United States, individuals with HoFH are currently undertreated, with significant delays in the adoption of LDLR-independent pharmacotherapies.
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