How to diagnose familial hypercholesterolemia?

hypercholestérolémie familiale

Hypercholesterolemia refers to a total plasma cholesterol concentration ≥ 5.17 mmol/L. It is one of the most important modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) including stroke, coronary artery disease, and peripheral artery disease.

Majority with hypercholesterolemia in the absence of positive family history or secondary cause(s) have polygenic hypercholesterolemia. By contrast, familial hypercholesterolemia (FH) is monogenic disorders affecting the clearance rate of LDL-C from the blood. To date, mutations in four genes (LDLR, APOB, PCSK9, and LDLRAP1) have been identified causing the disorder.

FH can be readily diagnosed clinically in most circumstance. It consists of personal and family history of hypercholesterolaemia, premature ASCVD, and the presence of xanthoma and/or premature arcus cornealis. (See below) Despite that, FH is often underdiagnosed.

In this APP, Professor David Chung-Wah SIU, a cardiologist from The University of Hong Kong will share with you how to diagnose FH using Dutch Lipid Clinic Network (DLCN) criteria.