The Cost-Effectiveness of Screening and Management Strategies for Familial Hypercholesterolemia in the United States: A Markov Model Analysis

Introduction: Familial hypercholesterolemia (FH) is a genetic disease that leads to build up of low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). The diagnosis rate of FH in the United States is only about 20%, and currently less than 50% of people with high cholesterol get treatment. Of main concern is the lack of careful monitoring of FH individuals and suboptimal adherence to satins, which are effective in lowering cholesterol levels, risk of heart attack and stroke, and heart disease-related death. While the newest American Heart Association and American College of Cardiology cholesterol guidelines suggest more widespread use of statins in potential heart disease patients, another option to improve FH outcomes could lie in medication adherence programs. Given recent cost-effectiveness studies that have evaluated alternative genetic cascade screening programs for FH in many European countries, similar testing strategies with the addition of statin adherence programs could be cost-effective in a US context.

Objective: The objective of this study is to conduct a cost-effectiveness analysis of lipid cascade screening, genetic cascade screening, and lipid cascade screening plus a statin adherence program for FH diagnosis and treatment in terms of incremental costs per quality-adjusted life years (QALYs) gained and incremental cost-effectiveness ratios (ICERs) between screening strategies.

Methods: A Markov model, with transition probabilities derived from published literature, was used to model the three strategies. PubMed, Google Scholar and NICE guidelines were used to find relevant literature. Costs were obtained from published studies, CPT codes, and the 2013 Veterans Affairs Federal Supply Schedule. Health state utilities were taken from the literature.

Results: Genetic cascade screening is not cost-effective compared to lipid cascade screening (base case) at a US willingness-to-pay of $150,000/QALY. While the incremental costs of genetic cascade screening compared to the base case are less than those of lipid screening plus adherence program compared to the base case, only 0.01 QALYs are gained from the genetic screening strategy compared to the base case. Lipid cascade screening plus a statin adherence program is cost-effective compared to both the base case and genetic cascade screening.

Conclusion: The addition of a statin adherence program is cost effective in lipid cascade screening of FH in the US. Contrary to results from European studies, the cost-effectiveness of genetic screening has not been demonstrated in a US societal setting, especially when compared with an adherence program, which also benefits high cholesterol individuals without FH. Variability in the data, along with a lack of comparable US studies suggests a need for further analyses.