Friday, May 18, 2012

Tangier disease

Tangerines in the throat!

Aut recessive, rare

Deficiency of ABCA1 transporter needed to transport cholesterol out of cells

Low serum cholesterol, No cholesterol to pick up leading to low HDL

cholesterol accumulation in cells and tissues

Enlarged, yellow or orange tonsils, premature artherosclerosis, hepatosplenomegaly, corneal clouding

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