Tangier disease (alpha-lipoprotein deficiency)
J. G. Brook, R. S. Lees, J. H. Yules and B. Cusack
A patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia,
and splenomegaly was found, on lipoprotein analysis, to have Tangier
disease (alpha-lipoprotein deficiency). He represents the first patient
with the disease in the northeastern Unit States. Although free of clinical
evidence of atherosclerosis at age 38 years, the patient has widespread
tissue cholesterol ester deposition and a stron family history of
atherosclerosis. Tangier disease may be much underdiagnosed; it should be
suspected in every patient with hypocholesterolemia.
