Article Text

Download PDFPDF
Pathology of Tangier disease
  1. Patricia M. Bale,
  2. P. Clifton-Bligh,
  3. B. N. P. Benjamin,
  4. H. M. Whyte
  1. Institute of Pathology, Royal Alexandra Hospital for Children, Camperdown, Sydney
  2. Department of Clinical Science, Australian National University, Canberra

    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.

    Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.