EC Paediatrics

Sitosteloremia is a rare disorder of lipid metabolism characterized by increased absorption and decreased biliary excretion of plant sterols and cholesterol. We report a case of a healthy 10-year-old boy with hypercholesterolemia was treated with cholestyramine, but was suspended due to the poor tolerance, statins were initiated with increasing dose, without success. The laboratory study showed mutations in the ABCG5 gene and elevated serum sterol levels. With diagnosis of sitosteloremia, and treatment with low plant sterol diet and ezetimibe, for four months later, the serum cholesterol normalized. Misdiagnosis with familial hypercholesterolemia results in inappropriate therapy. Time matters, so early diagnosis and treatment of can prevent cardiovascular complications and improve the prognosis for patients.

 Keywords: Sitosteloremia; Hypercholesterolemia; Misdiagnosis; Genetic; ABCG5

1. Ajagbe BO., et al. “Plant sterols, stanols, and sitosteloremia”. Journal of AOAC International3 (2015): 716-723.
2. Bhattacharyya AK., et al. “b-Sitosteloremia and Xanthomatosis: a newly described lipid storage disease in two sisters”. Journal of Clinical Investigation4 (1974): 1033-1043.
3. Hansel B., et al. “Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects”. Atherosclerosis 1 (2014): 162-168.
4. Berge KE., et al. “Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters”. Science5497 (2000): 1771-1775.
5. Gylling H., et al. “European Atherosclerosis Society Consensus Panel on Phytosterols. Plant sterols and plant stanols in the management of dyslipidaemia and prevention of cardiovascular disease”. Atherosclerosis 2 (2014): 346-360.
6. Xu L., et al. “Features of sitosteloremia in Children”. American Journal of Cardiology9 (2020): 1312-1316.
7. Tada H., et al. “Diagnosis and management of sitosteloremia”. Journal of Atherosclerosis and Thrombosis8 (2021): 791-801.
8. Yoo EG. “Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management”. Annals of Pediatric Endocrinology and Metabolism1 (2016): 7-14.
9. Kawamura R., et al. “Acute myocardial infarction in a 25-year-old woman with sitosterolemia”. Journal of Clinical Lipidology 1 (2018): 246-249.
10. Rocha VZ., et al. “Update on Sitosterolemia and Atherosclerosis”. Current Atherosclerosis Reports5 (2023): 181-187.