Natural history studies of familial hypercholesterolemia (FH), a genetic disorder associated with elevated cholesterol and premature coronary artery disease, and with a frequency of about 1:500 in the general population, were first conducted in the 1970s. 1 Homozygotes, with cholesterol levels in excess of 500 mg/dl experience coronary events as early as adolescence and heterozygotes (with one normal and one abnormal gene) are affected prematurely in middle age. The first major breakthrough in understanding the disease came with the discovery of the low density lipoprotein (LDL) receptor by Brown and Goldstein, work that won the Nobel prize.
Recommended CitationGidding, MD, Samuel S., "Familial Hypercholesterolemia: A Decade of Progress" (2010). Department of Pediatrics Faculty Papers. Paper 21.