Familial hypercholesterolaemia is a common autosomal dominant 1 condition resulting in hyperlipidaemia.
Epidemiology
1 in 200 individuals are estimated to be carriers of at least one gene associated with familial hypercholesterolaemia 1.
Pathology
Features of hyperlipidaemia such as early/excessive atherosclerosis including coronary artery disease, and xanthoma formation.
Genetics
Three mutations are classically associated with familial hypercholesterolaemia 1:
LDL receptor (LDLR) in 85% of cases
ApoB protein (APOB) in 5-10% of cases
PCSK9 in 1-2% of cases