Department of Internal Medicine, School of Medicine, University of Ioannina, Ioannina, Greece.
Department of Haematology, University of Ioannina, Ioannina, Greece.
J Clin Lipidol. 2017 Jul-Aug;11(4):1095-1100. doi: 10.1016/j.jacl.2017.04.116. Epub 2017 Apr 30.
Sitosterolemia is a metabolic disorder characterized by increased intestinal absorption and tissue accumulation of phytosterols. Although sitosterolemia is considered a rare disease, its prevalence may be significantly higher than initially thought. Indeed, accumulating evidence suggests that patients with unexplained hematologic abnormalities or premature cardiovascular disease in the absence of classic risk factors may exhibit disordered phytosterol metabolism. In this review, we present a patient with sitosterolemia, describe the pathophysiology and the clinical picture of this disorder, and discuss the clinical value of phytosterol supplementation in patients with primary dyslipidemias.
甾醇血症是一种代谢紊乱疾病，其特征为植物固醇在肠道吸收增加和组织蓄积。虽然甾醇血症被认为是一种罕见疾病，但它的流行程度可能比最初认为的要高得多。事实上，越来越多的证据表明，无明显原因的血液学异常或无经典危险因素的早发性心血管疾病患者可能存在植物固醇代谢紊乱。在这篇综述中，我们介绍了一位甾醇血症患者，描述了这种疾病的病理生理学和临床表现，并讨论了在原发性血脂异常患者中补充植物固醇的临床价值。
