The Boy with Orange Tonsils

Lovely Tangier Island off the coast of Virginia offers a glimpse of a simpler life, where golf carts are the preferred mode of travel, residents speak with a unique Old English dialect, three-quarters of the population share one of four last names, and the teeming waters of the Chesapeake Bay provide the economic sustenance for a majority of its residents. But about 40 years ago doctors learned that Tangier Island offered something else: a genetic disorder of cholesterol transport. They dubbed the disorder Tangier disease.

The medical mystery began with a 5-year-old boy with orange tonsils, a very low HDL level, and an enlarged liver and spleen. Because his HDL level was so low, he was unable to eliminate enough cholesterol from his body, resulting in the orange tonsils (cholesterol is faintly yellowish). Only about 40 cases worldwide have been reported.

In 1999 scientists discovered the gene responsible for this disease and for a less serious condition that also results in low HDL. The gene encodes a protein that helps rid cells of excess cholesterol. The gene is defective in people with Tangier disease. 

The discovery of this gene may lead to a better understanding of the relationship between HDL and heart disease, possibly resulting in new drugs that regulate HDL levels.

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