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| sitosterolemia ： ウィキペディア英語版 |
sitosterolemia
Sitosterolemia (also known as "Phytosterolemia") is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia, tendon and tuberous xanthomas, premature development of atherosclerosis, and abnormal hematologic and liver function test results.
== Epidemiology==
Around 80 cases have been reported in the literature worldwide, hence this condition appears to be relatively rare. More than likely, sitosterolemia is significantly underdiagnosed and many patients are probably misdiagnosed with hyperlipidemia.
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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