Estimating the Costs of Familial Hypercholesterolemia Management Using Primary Claims Data

OBJECTIVES:

Familial hypercholesterolemia is a rare genetic condition increasing an individual’s risk of cardiovascular disease. Early diagnosis and access to lipid-lowering treatment are essential to prevent stroke, heart attack, and cardiac death. Limited understanding of familial hypercholesterolemia costs to payers prevents the economic assessment of optimal screening and treatment strategies. We sought to measure the direct medical costs of diagnostic lipid panel testing and pharmacotherapy for familial hypercholesterolemia from real-world data.

METHODS:

We analyzed administrative claims data from a regional commercial insurer from January 2018 to December 2020. Cohorts consisting of adults with hyperlipidemia and familial hypercholesterolemia were identified using the presence of ICD-10-CM diagnosis codes on 1 inpatient or 2 outpatient claims. We quantified the mean cost of lipid testing and prescriptions for statins, ezetimibe, and PCSK9 inhibitors in 2020 US dollars using winsorization. We also used linear regression to evaluate the effect of medication choice on cost to payers among statins and PCSK9 inhibitors.

RESULTS:

The mean cost of a lipid panel for diagnosing familial hypercholesterolemia was $83.27 among patients with hyperlipidemia. The mean charge for a 90-day supply of statins was $407.39 compared to $176.33 for a 30-day supply for patients with familial hypercholesterolemia. PCSK9 inhibitors generated the highest mean charge for lipid-lowering therapies at a mean cost of $739.60 for a 28-day prescription. The mean costs for PCSK9 inhibitors and statins also showed substantial variation within drug classes.

CONCLUSIONS:

While the cost for lipid panel testing is moderate, lipid-lowering pharmacotherapy has the potential to generate substantial costs in treating familial hypercholesterolemia as a lifelong condition. Further investigation is necessary to understand the cost of genetic testing as a potentially more accurate test for familial hypercholesterolemia diagnosis. Additionally, future studies should examine the cost-effectiveness of different screening and treatment strategies for managing elevated cardiovascular disease risk in affected individuals.