Homozygous familial hypercholesterolemia: development and a case illustration

Abstract

Familial hypercholesterolemia (FH) is a genetic disease caused by a mutation of the gene encoding for the low density lipoproteins (LDL) membrane receptor. The mutation is transmitted in an autosomal dominant mode and is manifested by permanent elevation of the plasma LDL-cholesterol concentration; such elevation is responsible for the early onset of cardiovascular complications. The other clinical manifestation is the existence of extravascular cholesterol deposits: xanthomas and corneal arcus. There are two forms of familial hypercholesterolemia: homozygous FH and heterozygous FH which is generally less severe biologically and clinically. We report in this work, a case of FH diagnosed at the laboratory of clinical chemistry of Rabat children's hospital. The lipid profile revealed a dramatic LDL-cholesterol elevation (24 mmol/L) with normal triglycerides concentration (0.84 mmol/L). The physical examination revealed cutaneous xanthomas. The diagnosis of homozygous FH was strongly suggested by family study.