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Tonsil with Tangier disease. (Pathology Clinic).


Tangier disease is a rare autosomal-recessive inherited disorder that is caused by a defect in chromosome 9q3 1. It is characterized by a severe deficiency or absence of high-density lipoproteins in plasma. A defect in cellular cholesterol removal results in the massive, abnormal accumulation of cholesterol esters in macrophages in many tissues. Although this accumulation is most conspicuous in the tonsils tonsils, name commonly referring to the palatine tonsils, two ovoid masses of lymphoid tissue situated on either side of the throat at the back of the tongue. , progressive accretion of these esters also occurs in nerves (neuropathy) and vessels (atherosclerosis). The pathognomonic pathognomonic /pa·thog·no·mon·ic/ (path?ug-no-mon´ik) specifically distinctive or characteristic of a disease or pathologic condition; denoting a sign or symptom on which a diagnosis can be made.  finding is a low plasma cholesterol concentration accompanied by normal or elevated triglyceride levels and large, lobulated lobulated /lob·u·lat·ed/ (lob´ul-at-id) made up of lobules.

lobulated

made up of lobules.
, hyperplastic, bright orange-yellow tonsils and adenoid tissue. Affected families have been identified on Tangier Island, Va., in Chesapeake Bay as well as in Missouri, Kentucky, and Europe.

Microscopically, the affected tissues demonstrate a prominent accumulation of foamy histiocytes (xanthoma xanthoma /xan·tho·ma/ (zan-tho´mah) a tumor composed of lipid-laden foam cells, which are histiocytes containing cytoplasmic lipid material.  cells) that contain lipid droplets (cholesterol esters) and occasionally crystalline material (figure). Lipid droplets are not present in lysosomes lysosomes
(līssōmz),
n the self-contained organelles found inside most cells, which contain hydrolytic enzymes that aid in intracellular digestion.
. The foamy histiocytes aggregate in clusters, often in the parafollicular area of the lymph nodes or tonsils. It is important to perform special studies to exclude an infectious etiology.

The diagnosis is considered important because, although there is no specific therapy, heart disease affects these patients at a very early age.

Suggested reading

Assmann G, von Eckardstein A, Brewer HB, Jr. Familial high density lipoprotein High density lipoprotein (HDL)
A fraction of total serum lipids, the so called "good" cholesterol.

Mentioned in: Hypercholesterolemia
 deficiency: Tangier disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill, 1995:2053-66.

Ferrans VJ, Fredrickson DS. The pathology of Tangier disease. A light and electron microscopic study. Am J Pathol 1975;75:lOl-58.
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Author:Thompson, Lester D.R.
Publication:Ear, Nose and Throat Journal
Article Type:Brief Article
Geographic Code:1USA
Date:Mar 1, 2003
Words:265
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