Tangier Disease

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Abstract
Two young siblings with tonsils of extraordinary size and appearance, enlargement of the liver, spleen and lymph nodes, and hypocholesterolemia are discussed. These findings are related to the presence of reticyloendo-thelial cells laden with very large amounts of cholesterol esters and the complete, or almost complete, absence of plasma alpha or high density lipoproteins. Such deficiency of high density lipoproteins has never been reported. The specific accumulation of cholesterol esters in tissues is also unusual, for several different lipid classes tend to be elevated in most other instances of tissue lipid storage. This is apparently a new genetically determined disease. Until the disease can be described in terms of the basic defect, it has been named simply "Tangier disease" after the island of origin. The detection of the disease is discussed against the background of lipid metabolism and the lipidoses.