Tangier disease

(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