Tonsil with Tangier disease. (Pathology Clinic).Tangier disease is a rare autosomal-recessive 1. tending to recede; in genetics, incapable of expression unless the responsible allele is carried by both members of a pair of homologous chromosomes. 2. a recessive allele or trait. re·ces·sive (r 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 a-lipoprotein , alpha lipoprotein one with electrophoretic mobility equivalent to that of the a1-globulins, e.g., high-density lipoprotein. ß-lipoprotein , beta lipoprotein one with electrophoretic mobility equivalent to that of the ß-globulins, e.g., low-density lipoprotein. floating beta lipoproteins ß. in plasma. A defect in cellular cholesterol removal results in the massive, abnormal accumulation of cholesterol esters ester /es·ter/ (es´ter) a compound formed from an alcohol and an acid by removal of water.es·ter ( s t in macrophages in many tissues. Although this accumulation is most conspicuous in the tonsils, 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.pa·thog·no·mon·ic (p 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., hyperplastic, bright orange-yellow tonsils and adenoid 1. pharyngeal tonsil. 2. pertaining to a pharyngeal tonsil. 3. resembling a gland. 4. (pl.) hypertrophy of the pharyngeal tonsils, usually seen in children. ad·e·noid ( 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 his ti·o·cyt ic (-s t![]() k) adj. (xanthoma cells) that contain lipid droplets (cholesterol esters) and occasionally crystalline material (figure). Lipid droplets are not present in lysosomes. 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 1. the science dealing with causes of disease. 2. the cause of a disease.etiolog´icetiolog´ical e·ti·ol·o·gy or ae·ti·ol·o·gy ( . 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 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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