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Tangier disease
Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia 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.
==History==
In 1959, a five-year-old patient named Teddy Laird from Tangier Island, Virginia, presented with strikingly large and yellow-orange tonsils which were removed by armed forces physicians. After initial diagnosis with Niemann-Pick he was transferred to Dr. Louis Avioli at the National Cancer Institute. Donald Fredrickson, then head of the Molecular Disease Branch, became aware of the case and had a hunch that the original diagnosis was incorrect. In 1960 he traveled with Dr. Avioli to Tangier Island for further investigation. After finding the same symptom in Teddy's sister and investigation revealing an extremely high number of foam cells in not only the tonsils but a wide range of tissues including the bone marrow and spleen, a second trip to the island was made and the discovery was made of very low HDL cholesterol in both the sister and parents of Teddy, evidence for a genetic basis of the disease.〔''When a Gene Makes You Smell Like A Fish'' - Published 1990 Received From the Tangier History Museum"〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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