Tangier disease (familial high density lipoprotein deficiency): Clinical and genetic features in two adults

Abstract

Two brothers, aged forty-five and forty-eight, with familial deficiency of high-density lipoprotein (HDL) (Tangier disease) are described. These are the fifth and sixth known patients and the first adults with the disease. They demonstrated the hypocholesterolemia, abnormal tonsils and tissue storage of cholesterol esters characteristic of this condition. One brother had hypersplenism and both had unusual infiltration of the corneas and rectal mucosa, new findings presumably related to the chronic course of Tangier disease. One brother had coronary artery disease which apparently caused his death. Low plasma concentrations of highdensity lipoprotein were distributed among family members in a manner similar to that reported in the two other involved kindreds.