What is Familial Hypercholesterolemia (FH) ?

Familial hypercholesterolemia, or FH, is a hereditary genetic disease.

It is characterised by high levels of LDL-c in the blood from birth, regardless of lifestyle, diet or weight, Chronic exposure to high levels of LDL-c is the cause of early heart attacks and strokes (in women <60 years, and in men <55 years).

Ordinarily, LDL-c is transported to the liver FH is caused by defects in the genes involved in the transport and entrance of LDL-cholesterol into the liver: LDLR, APOB and PCSK9.

FH is generally transmitted from parent to child: the risk of passing it on to your children is 50% or a 1 in 2 chance during each pregnancy.

FH can be detected through a simple cholesterol test carried out from age 7-8. A definitive diagnosis can be made by identifying the genetic defect, which is a test also carried out using a blood sample.