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2693 pages added, reviewed or updated during the last month (last updated: 14/4/2021)


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TD ( Tangier disease )

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Tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island.

Features:

  • autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy, a syringomyelia-like syndrome in the presence of lymphadenopathy, and frequently premature coronary artery disease (CAD)
  • heterozygotes, HDL-C levels are about one-half those of normal individuals. It is the impaired cholesterol efflux from macrophages leads to the presence of foam cells throughout the body, which may explain the increased risk of coronary heart disease in some TD families. Also the accumulation of cholesteryl esters in macrophages, causes enlargement of the liver, spleen and tonsils. Experimental evidence suggests that defects in human ATP cassette-binding transporter 1 (ABC1), encoding a member of the ABC transporter superfamily, are the cause of TD. This is a cell-membrane protein that mediates the secretion of excess cholesterol from cells into the HDL metabolic pathway

Last reviewed 10/2020

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