Tangier disease
Definition
Tangier disease is a rare autosomal recessive condition characterized by low levels of high density lipoprotein cholesterol (HDL-C) in the blood, accumulation of cholesterol in many organs of the body, and an increased risk of arteriosclerosis.
Description
Donald Fredrickson was the first to discover Tangier disease. He described this condition in 1961 in a five-year-old boy from Tangier Island who had large, yellow-orange colored tonsils that were engorged with cholesterol. Subsequent tests on this boy and his sister found that they both had virtually no high density lipoprotein cholesterol (HDL-C) in their blood stream. Other symptoms of Tangier disease such as an enlarged spleen and liver, eye abnormalities, and neurological abnormalities were later discovered in others...
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