H number H00155
Name Familial hypercholesterolemia;
Autosomal dominant hypercholesterolaemia
Description Familial hypercholesterolaemia is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease.
Category Inherited metabolic disease; Cardiovascular disease