Orange tonsil

Tangier disease is a rare autosomal recessive disorder characterized by the near absence of plasma HDL and the storage of esterified cholesterol in foam cells in many tissues. Clinical features include enlarged orange-colored tonsils, splenomegaly and a relapsing sensory-motor neuropathy. The clincial aspects of Tangier disease have been reviewed elsewhere (H24, S10). 

H. Tangier disease, lliere is an absence of HDL due to a defect in Apolipoprotein AI. Serum cholesterol levels are low. Cellular cholesterol is high. Cholesterol cannot be transported back to the liver and, instead, accumulates in phagocytic cells. The tonsils are orange (like a Tangerine) and enlarged. There are various neurologic problems and corneal opacities. 

The second case of TD, the only sibling of the first patient, was a girl in whom at the age of six enlargement and orange discoloration of the tonsils were found. Here, too, the concentration of cholesterol esters in the tonsils was extremely high. In both children plasma total cholesterol levels were below 100 mg per 100 ml. and plasma HDL were absent (Fredrickson et al. 1961 Fredrickson and Altrocchi 1962). 

Fig. 2. Tonsils in Tangier disease. Patient E. L., age 6. The lighter bands on the tonsils appear orange in situ, yellow-white after removal. Source Fredrickson et al. (1961). (Reproduced with Mnd permission of Annals of Internal Medicine and the authors)...

Tonsils shown to have increased content of cholesterol esters remainder judged abnormal by history and presence of persistent tags or follicles having distinctive orange or yellow-white color. Source Fredrickson (1966). 

Clinical signs and symptoms are discrete and largely non-specific. The typical discoloration of the tonsils with a translucent orange ring surrounding the mucosal tags may provide the only diagnostic clue for someone who has had occasion... 

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