Dictionary of Human Evolution and Biology

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Hypercholesterolemia, Familial

One of the genetic forms of coronary heart disease that manifests in the fourth or fifth decade of life. Genetically deficient low-density lipoprotein protein receptors (LDLRs) in the liver cause LDL cholesterol to accumulate in the blood, resulting in high blood cholesterol, atherosclerosis and heart disease. Most mutations in the FHC gene prevent the synthesis of LDLR; others prevent its removal from the endoplasmic reticulum; still other mutations interfere with LDL binding. Affected individuals are often compound heterozygotes. The condition is a rare example of incomplete dominance in humans. Aka inherited hypercholesterolemia.

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