CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA
Introduction. Sitosterolemia is a rare genetic disorder directly associated with dysfunction of ABCG5 and G8 genes. The data obtained was used to analyze the cellular mechanisms and the role of transporters in absorption and excretion of serum sterols. Thus, to understand the influence of mutations on the development of cardiovascular disease.
Aim. To investigate the clinical manifestation between sitosterolemia and familial hypercholesterolemia (FH), focusing on how dysfunctions of transporters lead to the misdiagnosis of sitosterolemia as FH.
Research Strategy. The data collection was conducted by searching research papers in English based on lipidology. The search strategy identified 118 papers, of which 42 were selected that meet established inclusion criteria: full-text publications in English, meta-analyses, cohort studies, experiments on mice, whereas established exclusion criteria: research papers in other languages, promotional articles, conferences, short reports. The research papers reviewed the span from 1970 to 2022.
Results. Inactivation of genes causes the dysregulation of sterols. FH is characterized by elevated low-density lipoprotein cholesterol (LDL-C), whereas sitosterolemia presents with moderate elevation in LDL-C but dramatic increase in phytosterols. The phenotypic overlap between sitosterolemia and FH complicates detection. Both disorders manifest cardiovascular complications with elevated total cholesterol (TC) levels. The lipid profile distinguishes these conditions, necessitating HPLC, GC-MS tools. Genetic testing for mutations is essential for confirmation. The findings suggest that sitosterolemia mimics the FH state. FH is managed primarily with statins, while sitosterolemia requires ezetimibe. In addition, dietary modifications that reduce the intake of plant sterols are recommended.
Conclusion. This review highlights ABCG5 and ABCG8 mutations that impair sterol transport, causing plant sterol accumulation. The condition often leads to xanthomas and early coronary artery disease. A major diagnostic challenge is the overlap with FH, as similar lipid abnormalities can obscure proper diagnosis.
Rassul D. Shokenov1, https://orcid.org/0009-0007-2867-3126
Tomiris K. Shakhmarova1,2, https://orcid.org/0009-0008-6884-3908
Zhanel Zh. Mirmanova1,2, https://orcid.org/0000-0002-0284-3891
Ayaulym Ye. Chamoieva1,2, https://orcid.org/0000-0003-0877-3537
Madina R. Zhalbinova1,2, https://orcid.org/0000-0001-9704-8913
Saule E. Rakhimova1,2, https://orcid.org/0000-0002-8245-2400
Makhabbat S. Bekbossynova3, https://orcid.org/0000-0003-2834-617X
Ainur R. Akilzhanova1,2, https://orcid.org/0000-0001-6161-8355
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Shokenov R.D., Shakhmarova T.K., Mirmanova Zh.Zh., Chamoieva A.Ye., Zhalbinova M.R., Rakhimova S.E., Bekbossynova M.S., Akilzhanova A.R. Characterizing the Role of ABCG5/G8 in Sitosterolemia: Diagnostic Challenges in Differentiating from Familial Hypercholesterolemia // Nauka i Zdravookhranenie [Science & Healthcare]. 2024. Vol.26 (5), pp. 141-149. doi 10.34689/SH.2024.26.5.018Похожие публикации:
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