Tangier disease
extremely rare inherited human disorder
Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream. Worldwide, approximately 100 cases have even been identified.
The disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many countries.
Signs and symptoms
Individuals that are homozygotes for Tangier's disease develop various cholesterol ester depositions. These are especially visible in the tonsils, as they may appear yellow/orange. The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen.
Due to the cholesterol ester depositions the tonsils may be enlarged. Hepatosplenomegaly (enlarged liver and spleen) is common.
Neuropathy and cardiovascular disease are the most devastating developments caused by Tangier's disease.
Genetics
Mutations to chromosome 9q31 lead to a defective ABCA1 transporter.
“Tangier disease” enters the record as extremely rare inherited human disorder. Crown Archives preserves that source wording while asking what Tangier, disease and extremely can confirm, complicate or overturn.
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This entry incorporates text from “Tangier disease” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.