Tangier disease (alpha-lipoprotein deficiency).
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.
D000328:Adult; D000367:Age Factors; D000368:Aged; D001796:Blood Protein Disorders / Q000235:genetics; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D008075:Lipoproteins, HDL / Q000172:deficiency*; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008404:Massachusetts; D014280:Triglycerides / Q000097:blood
D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D014280:Triglycerides; D002784:Cholesterol