Tangier disease. A histological and ultrastructural study.
A case of Tangier disease with results of histological and ultrastructural studies is reported. The clinical, biological and histological picture was typical, with enlarged liver and spleen, voluminous tonsils, low blood levels of alpha-lipoproteins and cholesterol and high blood levels of triglycerides. The histological study revealed widespread tissue storage of cholesterol esters in the Mononuclear Phagocyte System. Lipid deposits were located in foamy histiocytes by staining with lipid-specific stains. The ultrastructural study revealed intracytoplasmic vacuoles unbounded by membranes and often confluent. Unlike other previously described cases, this one had a rapid fatal outcome.
D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology*; D006801:Humans; D007009:Hypolipoproteinemias / Q000473:pathology*; D007413:Intestinal Mucosa / Q000473:pathology*; D007728:Kupffer Cells / Q000648:ultrastructure; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008099:Liver / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D012007:Rectum; D013154:Spleen / Q000473:pathology* / Q000648:ultrastructure; D013631:Tangier Disease / Q000097:blood / Q000473:pathology*
D008055:Lipids; D008074:Lipoproteins