What is the pathophysiology of Tangier disease?

Updated: May 21, 2021
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

Tangier disease is an autosomal codominant disorder that causes a complete absence or extreme deficiency of HDL. LDL cholesterol levels are also usually reduced. The disease is characterized by the presence of orange tonsils, peripheral neuropathy, splenomegaly, discoloration of the rectal mucosa, hepatomegaly, opacities, premature CHD, and other abnormalities. Although the underlying mutation is not yet well defined, in some subjects the condition is caused by mutations of the adenosine triphosphate (ATP) – binding cassette transporter 1, which is involved in the passage of cholesterol from within the cells to outside the cells (efflux). [18, 19] Cholesteryl esters are deposited in the reticuloendothelial system.

Patients with Tangier disease also may exhibit accelerated HDL catabolism. Their HDL cholesterol levels are usually lower than 5 mg/dL. Their apo A-I levels are also very low. This condition has no specific treatment. [20, 21]


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