Introduction
Homozygous familial hypercholesterolemia (HoFH) is an inherited disorder caused most commonly by mutations in the low-density lipoprotein (LDL) receptor gene. The very high levels of LDL-cholesterol from birth lead to early and widespread atherosclerosis, and guidelines recommend early and intensive lowering of LDL-cholesterol. The prevalence of HoFH in the general population is more common than previously estimated, with about 1 in 160,000 to 300,000 having HoFH. The National Lipid Association conducted a survey to evaluate how primary care and other clinicians diagnose and manage patients with HoFH. We focused on clinicians in primary care and general medicine since they are usually the first in the healthcare community to see these patients.

The study was funded by an education grant from Aegerion Pharmaceuticals and Regenxbio.