Identification and management of heterozygous familial hypercholesterolemia: summary and recommendations from an NHLBI workshop.

Heterozygous familial hypercholesterolemia (hFH) is one of the most common monogenic disorders with serious health consequences, affecting approximately 1 in 500 persons in the United States. Persons with hFH generally manifest elevations of low density lipoprotein (LDL) cholesterol throughout their lives and have a markedly increased risk of death from coronary artery disease. The hypercholesterolemia of hFH is responsive to medication and diet, and, if detected early, aggressive LDL cholesterol control may prevent or substantially delay cardiovascular disease. However, evidence suggests that many persons with hFH are undetected and inadequately treated. On July 20-21, 1992, the National Heart, Lung, and Blood Institute sponsored a workshop to assess the current understanding of the diagnosis and management of hFH, to emphasize recommendations for identification and management that are known to be effective, and to identify opportunities and needs for intervention and research.