Novel rare variants associated with familial hypercholesterolemia in genes such as lysosomal lipase A (LIPA), patatin‐like phospholipase domain containing 5 (PNPLA5), hepatic lipase (LIPC), cytochrome P450 (CYP27A1), steroid 27‐hydroxylase, cerebrotendinous xanthomatosis (subfamily XXVIIA), polypeptide 1, endothelial lipase (LIPG) and cytochrome P450 family 7 subfamily A member 1 (CYP7A1) have been identified through pedigree analysis.14, 32, 33, 34, 35. The gene discussed is LIPC; the disease is cerebrotendinous xanthomatosis.