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  • Title: Pathology of Tangier disease.
    Author: Bale PM, Clifton-Bligh P, Benjamin BN, Whyte HM.
    Journal: J Clin Pathol; 1971 Oct; 24(7):609-16. PubMed ID: 5118827.
    Abstract:
    Two cases of Tangier disease are described in children from families unrelated to each other. Necropsy in one case, the first to be reported in this condition, showed large collections of cholesterol-laden macrophages in tonsils, thymus, lymph nodes, and colon, and moderate numbers in pyelonephritic scars and ureter. As the storage cells may be scanty in marrow, jejunum, and liver, the rectum is suggested as the site of choice for biopsy. The diagnosis was confirmed by demonstrating the absence of alpha-lipoproteins from the plasma of the living child, and by finding low plasma levels in both parents of both cases. The disease can be distinguished from other lipidoses by differences in the predominant sites of storage, staining reactions, and serum lipid studies.
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