A patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia, and splenomegaly was found, on lipoprotein analysis, to have Tangier disease (α-lipoprotein deficiency). He represents the first patient with the disease in the northeastern United States. Although free of clinical evidence of atherosclerosis at age 38 years, the patient has widespread tissue cholesterol ester deposition and a strong family history of atherosclerosis. Tangier disease may be much underdiagnosed; it should be suspected in every patient with hypocholesterolemia.
(JAMA 238:332-334, 1977)
Brook JG, Lees RS, Yules JH, Cusack B. Tangier Disease (α-Lipoprotein Deficiency). JAMA. 1977;238(4):332–334. doi:10.1001/jama.1977.03280040052021
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