Proto Magazine (Fall 2009): Tangier Disease: One Island's Treasure

Publication Date: 
Thu, 10/01/2009

The surgeon who removed the five-year-old boy's tonsils in 1959 had never seen anything like them. Instead of pinkish lobes, the boy's tonsils were huge and orange. Thinking that their extraordinary appearance might signal a rare malignancy, the surgeon sent the tonsils to the Armed Forces Pathology Institute in Washington, DC. Though researchers there found no cancer, they did discover the reason for the tissue's abnomal size and color:  Its cells were bloated with cholesterol. That prompted a call to a leading cholesterol expert, the National Heart Institute's Don Fredickson, who packed his medicine bag and take a ferry to the boy's home on Tangier Island, 12 miles off the coast of Virginia.

John Smith, of Jamestown fame, discovered the island in 1608, its stretches of pale sand reminding him of North Africa's Tangier. To Frederickson, 350 years later, the island seemed a likely place for a rare, inherited condition to become more prevalent than it could ever be in a more diverse, widely dispersed population.