What are xanthomata and familial hypercholesterolaemia?

Lipid Deposits: Familial hypercholesterolemia (fh) is a genetic disorder causing decreased clearance of LDL from blood. Most patients get a defective gene from on parent causing heterozygous fh (about 1 in 500 children). Rarely, genes from both parents are defective giving homozygous fh (1 in 1, 000, 000). Beyond high LDL levels, lipid deposits called xanthomas, can occur in tendons on the back of the heal or hands.