Tangier disease
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(Analphalipoproteinemia)
Autosomal recessive transmission of a mutation of the gene which codes for the ABC1 protein which has the property of directing the cholesterol towards the surface of the cells and transfer it to HDL lipoproteins . HDL deficiency. Accumulation of cholesterol esters in the spleen, tonsils, the cornea, the intestinal mucosa. Occasional hepatosplenomegaly with hypersplenism . Enlarged tonsils. Corneal opacities. Peripheral neuropathy (loss of thermosensitivity, paresis). Risk of atheromatosis.
Anesthetic implications:
check the bone marrow and liver functions. Eye protection.
References :
- Mentis SW.
Tangier disease.
Anesth Analg 1996; 83:427-9.
Updated September 2018