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. 1971 Oct;24(7):609–616. doi: 10.1136/jcp.24.7.609

Pathology of Tangier disease

Patricia M Bale 1,2, P Clifton-Bligh 1,2, B N P Benjamin 1,2, H M Whyte 1,2
PMCID: PMC477105  PMID: 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 α-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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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