Familial hypercholesterolaemia (FH) is the most common and serious form of inherited dyslipidaemia. FH is characterised by elevated plasma total cholesterol and low-density lipoprotein-cholesterol (LDL-C) levels from birth, frequently with other clinical signs such as tendon xanthomata. Increased lifelong exposure to LDL-C accelerates the atherogenic process, cumulatively placing individuals with FH at high risk of early cardiovascular disease. The clinical consequences of FH are preventable through early detection and treatment with lifestyle measures and effective LDL-C lowering therapies.
The purpose of this Essential Knowledge Briefing is to raise awareness, improve knowledge and enhance clinical practice among healthcare professionals. We highlight the importance of screening for FH, and describe its phenotypic diagnosis, which may be confirmed through mutation testing. A summary of risk stratification and management approaches is also presented, in an effort to help improve outcomes in individuals with this important and highly treatable condition.