Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies.

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease resulting in elevated serum low-density lipoprotein cholesterol (LDL-C) levels. Patients with FH have a very high lifetime risk of cardiovascular disease, but FH often goes unrecognized in clinical care. New treatments including PCSK9 inhibitors are now available for this population, and the use of the electronic record may be able to help identify potential patients for therapy.

OBJECTIVES: The goal of this study was to determine the period prevalence of FH in a large ambulatory care population, including the homozygous form. In addition, use of cholesterol lowering therapy in individuals with FH was characterized.

METHODS: A retrospective analysis was carried out among patients seen in an upper Midwest health care system between 2009 and 2012. In a search of electronic health records (EHR) and using the current National Lipid Association guidelines, FH patients (including homozygous cases) were identified based on age and highest LDL-C. Statin therapy was characterized according to current FH treatment guidelines.

RESULTS: There were 391,166 individuals with available measures during the study timeframe. Of these, 841 were identified as having probable HeFH, representing a prevalence of 0.21% (about 1 in 470 patients) in this population. HoFH was identified as probable in 6 patients. For the total group, two-thirds of FH patients were on a statin, but only half were treated adequately. The remaining one-third of FH patients were not on statin therapy, with only 27% of those not on statin therapy having a documented statin intolerance.

CONCLUSIONS: FH is often underdiagnosed and suboptimally treated in clinical practice. Statin therapy in this population rarely went beyond low-moderate doses. These findings support EHR-based population health efforts to initiate an FH cascade-screening model and ensure higher quality care for this high-risk population and identify those who may benefit from advanced therapy.