Tangier Disease

Tangier disease is an autosomal-recessive disorder of lipoprotein metabolism that results in the deposition of xanthomatous cells in lymph nodes, tonsils, palate, spleen, and liver.

Epidemiology. The disorder was initially observed on Tangier Island in the Chesapeake Bay area of the United States. There appears to be gender predilection with the disease occurring in all age groups.

Pathogenesis. Tangier disease results in a deficiency of high-density lipoproteins and low levels of apoproteins. The metabolic imbalance ultimately results in deposition of clear xanthomatous cells throughout involved tissue.

Clinical Manifestations. Enlargement of involved tissues, including lymph nodes, is the presenting sign. Involvement of the tonsils demonstrates enlargement with a yellow appearance resembling pharyngotonsillitis. Cervical adenopathy is nontender.

Diagnosis. Tissue biopsy establishes the diagnosis. Histologically, multifocal deposition of clear cells is noted in the involved tissues.

Treatment. In general, no specific treatment is warranted unless symptoms occur. Significant tonsillar enlargement may require tonsillectomy.

Prognosis. The prognosis is good; however, coronary atherosclerosis is common in patients over 40 years of age.

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