NPC1L1 and Hypercholesterolemia: Recessively acting variants in ABCG5, involved in the intestinal and biliary excretion of cholesterol, are recognised to cause sitosterolemia and recent reports support an effect of heterozygous variants as causes of hypercholesterolaemia [15, 16] The product of NPC1L1, is involved in intestinal sterol absorption and is the target of ezetimibe, a cholesterol absorption inhibitor which lowers blood cholesterol [17] The product of ANGPTL3 is the target of evinacumab, a human monoclonal antibody for treating hypercholesterolaemia [18, 19].