Hyperlipidemia, Familial Combined; Fchl

Description

Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (OMIM ) and from familial hypertriglyceridemia (OMIM ) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population. Using elevation of VLDL, of LDL, or of both as the phenotype in family studies, Goldstein et al. (1973) and Brunzell et al. (1983) concluded that familial combined hyperlipidemia is an autosomal dominant with high penetrance. Homozygotes can show severe hypertriglyceridemia (Chait and Brunzell, 1983). Brunzell et al. (1976) estimated that 10% of premature coronary artery disease is caused by FCHL.

Clinical Features

• Abnormality of the cardiovascular system
• Myocardial infarction
• Hypertriglyceridemia
• Hyperlipidemia
• Atherosclerosis
• Hypercholesterolemia
• Increased LDL cholesterol concentration
• Xanthelasma
• Premature coronary artery atherosclerosis
• Increased VLDL cholesterol concentration

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