You are looking after a 38-year-old man on the ward who was admitted with a STEMI and treated with PCI. His total cholesterol has been found to be 11.8 mmol/L with LDL 7.3 mmol/L, and he has corneal arcus, tendon xanthomata, and a paternal family history of premature cardiovascular disease.
What is the most likely causative gene?
A. Proprotein convertase subtilisin-kexin type 9 (PCSK9)The clinical scenario is typical of familial hypercholesterolaemia. Although PCSK9 and APOB are causes, the most common cause is mutations in the low-density lipoprotein receptor. Sterol 27-hydroxylase causes cerebrotendinous xanthomatosis, and the low-density lipoprotein receptor adaptor protein 1 causes recessive hypercholesterolaemia.