[Tangier disease. A rare thesaurismosis]

The authors report the case of a 15-year old boy with Tangier disease characterized clinically by grossly enlarged tonsils, liver and spleen. Blood counts showed signs of hypersplenism, and blood lipid assays disclosed hypercholesterolaemia with moderate hypertriglyceridaemia and very low levels of high density lipoproteins. The diagnosis was confirmed by biopsies of the liver, spleen, rectal mucosa, tonsils and bone marrow, all tissues which contained foamy histiocytic cells staining like adipose cells. Following splenectomy, the child developed an unexplained, persistent (6 months) fever, then died suddenly of digestive haemorrhage. A genetic study showed a high degree of inbreeding, with 2 deaths probably due to Tangier disease. The authors contrast the surprising severity of this case with the apparent benignity of the disease as described in other publications.