REFERENCES
1. Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974;53:1033-43.
2. Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000;290:1771-5.
3. Tada H, Nohara A, Inazu A, Sakuma N, Mabuchi H, Kawashiri MA. Sitosterolemia, hypercholesterolemia, and coronary artery disease. J Atheroscler Thromb. 2018;25:783-9.
4. Xia Y, Duan Y, Zheng W, et al. Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia. J Clin Lipidol. 2022;16:40-51.
5. Gok V, Tada H, Ensar Dogan M, et al. A teenager boy with a novel variant of sitosterolemia presented with pancytopenia. Clin Chim Acta. 2022;529:61-6.
6. Myrie SB, Steiner RD, Mymin D. GeneReviews®. University of Washington, Seattle Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK131810/ [accessed 30 Sep 2026].
7. Durkie M, Cassidy EJ, Berry I, et al. ACGS best practice guidelines for variant classification in rare disease 2023. 2023. Available from https://www.acgs.uk.com/media/12443/uk-practice-guidelines-for-variant-classification-v1-2023.pdf [accessed 29 Sep 2026].
8. Wu P, Zhou LN, Xing Y, et al. Establishment of morphological reference values for the differential count of white blood cells in peripheral blood smear, as well as nucleated cells and megakaryocytes in bone marrow smear. Natl Med J China. 2022;102:506-12.
9. Walker LC, Hoya M, Wiggins GAR, et al. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: recommendations from the ClinGen SVI splicing subgroup. Am J Hum Genet. 2023;110:1046-67.
10. You Q, Liu J, Zhang R, et al. Splicing analysis of exonic TSC1 and TSC2 gene variants causing tuberous sclerosis complex. Hum Mutat. 2025;2025:1497712.
11. Jiang W, Xu Y, Fu Z, et al. Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease. Gene. 2023;879:147596.
12. Lee JY, Kinch LN, Borek DM, et al. Crystal structure of the human sterol transporter ABCG5/ABCG8. Nature. 2016;533:561-4.
13. Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016;21:7-14.
14. Tapiador R, González P, Hernandez-Rodriguez I. Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia. Int J Lab Hematol. 2024;46:985-7.
15. Hu YJ, Chen WL, Xue M, Ding YJ, Mei H, Wang YD. Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia. Chin J Hematol. 2025;46:238-43.
16. Zhao X, Su Z, Xiao W, et al. Molecular genetic basis and clinical heterogeneity of sitosterolemia: focusing on the mutation spectrum and pathogenic mechanisms of ABCG5/ABCG8 genes. Front Nutr. 2026;13:1857512.
17. Kanaji T, Kanaji S, Montgomery RR, et al. Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. Blood. 2013;122:2732-42.
18. Del Castillo J, Tool ATJ, van Leeuwen K, et al. Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations. Blood Adv. 2024;8:2466-77.
19. Coutinho JGV, Costa ACS, Issa MMM, et al. Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up. J Clin Lipidol. 2025;19:1139-44.
20. Hegele RA, Borén J, Ginsberg HN, et al. Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement. Lancet Diabetes Endocrinol. 2020;8:50-67.
21. Mymin D, Wang J, Frohlich J, Hegele RA. Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8. Circulation. 2003;107:791.
22. Tada H, Kojima N, Takamura M, et al. Sitosterolemia. In: Makowski GS, Editor. Advances in Clinical Chemistry. Elsevier; 2022. pp. 145-69.
23. Othman RA, Myrie SB, Mymin D, et al. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr. 2015;166:125-31.





