PCSK9
Associated conditions:
- Hypercholesterolaemia
PCSK9 makes a protein that controls how many LDL receptors the liver keeps for clearing cholesterol from the blood. Genetic changes in this gene that overactivate it remove too many receptors and are associated with an autosomal dominant condition called familial hypercholesterolaemia with early heart disease. Knowing your genetic status enables cholesterol-lowering treatment, including drugs that block PCSK9 itself.
Conditions linked to PCSK9
Hypercholesterolaemia
Familial hypercholesterolaemia causes very high LDL (harmful) cholesterol from birth, raising the risk of early heart disease. It is highly treatable with cholesterol-lowering medication and lifestyle steps, so early diagnosis is protective.
