β-Sitosterolemia and Xanthomatosis

Abstract

Recently, Bhattacharyya and Connor described in two sisters a lipid-storage disease, β-sitosterolemia and xanthomatosis,1 with tendon and tuberous xanthomas appearing at an early age despite normal plasma cholesterol levels. High concentrations of plant sterols, especially β-sitosterol and campesterol, were found in the plasma, red blood cells, xanthomas, adipose tissue and skin. In the following case the same disorder occurred in a patient unrelated to the two sisters originally identified.Case ReportA 31-year-old woman was referred to the National Institutes of Health Lipid Clinic five years ago because of xanthomatosis and mild hypercholesterolemia. Xanthomas, which first appeared at the age . . .