Last Updated
：2025/11/30
sitosterolemia
Noun
uncountable
Japanese Meaning
稀な遺伝性脂質代謝障害。食事中のステロールが過剰に吸収され、胆汁への排泄が減少することで高コレステロール血症、黄色腫、早期の動脈硬化、そして血液検査や肝機能検査の異常が生じる。
Quizzes for review
A rare inherited lipid metabolic disorder, characterized by hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia, xanthomas, premature atherosclerosis, and abnormal hematologic and liver function test results.
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sitosterolemia
After genetic testing, the patient was diagnosed with sitosterolemia, a rare inherited condition that required careful management to prevent premature cardiovascular disease.
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After genetic testing, the patient was diagnosed with sitosterolemia, a rare inherited condition that required careful management to prevent premature cardiovascular disease.
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