Update on Sitosterolemia and Atherosclerosis

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Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016;21(1):7–14. This is a detailed review on several aspects of sitosterolemia.

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Salen G, von Bergmann K, Lutjohann D, Kwiterovich P, Kane J, Patel SB, et al. Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. Circulation. 2004;109(8):966–71. This study showed that Ezetimibe produced significant and progressive reductions in plasma plant sterol concentrations in patients with sitosterolemia, consistent with the hypothesis that ezetimibe inhibits the intestinal absorption of plant sterols as well as cholesterol, leading to reductions in plasma concentrations.

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Lutjohann D, von Bergmann K, Sirah W, Macdonell G, Johnson-Levonas AO, Shah A, et al. Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. Int J Clin Pract. 2008;62(10):1499–510.

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Niu DM, Chong KW, Hsu JH, Wu TJ, Yu HC, Huang CH, et al. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. J Inherit Metab Dis. 2010;33(4):437–43.

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