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What are xanthomata and familial hypercholesterolaemia?

2 doctors weighed in
Dr. William Cromwell
Clinical Lipidology
1 doctor agrees

In brief: 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.

In brief: 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.
Dr. William Cromwell
Dr. William Cromwell
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