Abstract
Familial hypercholesterolemia or autosomal dominant hypercholesterolemia is characterized by raised serum LDL (low density lipoproteins)-cholesterol levels, which result in excess deposition of cholesterol in tissues, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. Familial hypercholesterolemia results from defects in the hepatic uptake and degradation of LDL via the LDL receptor pathway. Familial hypercholesterolemia is commonly caused by a loss of function in the LDL receptor gene, or by a mutation in the gene encoding apolipoprotein B ( APOB) or PCSK9 gene. In Tunisia, the frequency of this disease is about one of 165 for heterozygote. It is a higher frequency compared to most European countries, which is about one of 500 for heterozygote. Only five mutations in the LDLR gene were reported in this population. No mutations in the APOB or PCSK9 gene were reported.
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