Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL).
Tangier disease is a 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. High-density lipoproteins are created when a type of protein in the bloodstream, apolipoprotein A1 (apoA1), picks up cholesterol from the cells.
Those with Tangier disease have a greatly reduced ability to transport cholesterol out of their cells, leading to a deficiency of high-density lipoproteins in the bloodstream and the accumulation of cholesterol in many body tissues. Reduced blood levels of high-density lipoproteins is sometimes described as hypolipoproteinemia.
The symptoms of Tangier disease are as follows.
- Slightly elevated amount of fat in the blood
- Disturbances in nerve function
- Enlarged, orange coloured tonsils
- Enlarged spleen
- Enlarged liver
- Clouding of the clear covering of the eye
- Type 2 diabetes
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