Tangier disease

Tangier disease
Other namesFamilial alpha-lipoprotein deficiency[1]: 535 
SpecialtyEndocrinology 

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.[2] Worldwide, approximately 100 cases have even been identified.[3][4]

The disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many countries.

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  2. ^ Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22:352.
  3. ^ Orphanet. "Tangier disease". www.orpha.net. Retrieved 2018-12-22.
  4. ^ Genetics Home Reference. "Tangier disease". National Institute of Health. Retrieved 2018-12-22.
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