Clinical and genetic variants of hypertriglyceridemia in the practice of a lipidologist
- Authors: Kim Z.F.1,2, Galyavich A.S.1, Sadykova D.I.1, Nurieva L.M.2, Kim S.S.1
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Affiliations:
- Kazan State Medical University
- City Clinical Hospital No. 7
- Issue: Vol 104, No 3 (2023)
- Pages: 350-357
- Section: Theoretical and clinical medicine
- URL: https://kazanmedjournal.ru/kazanmedj/article/view/117632
- DOI: https://doi.org/10.17816/KMJ117632
- ID: 117632
Cite item
Abstract
Background. An important role in identifying the causes and determining the prognostic significance of dyslipidemia belongs to the level of triglycerides. High triglycerides are a risk factor for the development or early onset of cardiovascular disease.
Aim. To assess the frequency of detection and causes of hypertriglyceridemia among patients receiving outpatient appointments with a lipidologist.
Material and methods. An analysis of lipid metabolism disorders in patients of the Adult Lipidology Center was carried out: 1233 people aged 18–84 years, including 777 (63%) women and 456 (37%) men. Examination of patients with dyslipidemia included an examination by a cardiologist-lipidologist (with the calculation of the risk of cardiovascular complications), an assessment of the probability of familial hypercholesterolemia according to the British scale and the criteria of the Dutch lipid clinics, a biochemical blood test, an analysis of the thyroid status, the content of glycated hemoglobin, extracranial duplex scanning, according to indications — echocardiography. Biomaterial samples from 421 patients with the phenotype of inherited dyslipidemia were examined by next generation sequencing to identify the carriage of APOE gene isoforms, as well as genes associated with familial hypercholesterolemia (LDLR, LDLRAP1, APOB, PCSK9). For statistical processing of research data, descriptive statistics methods were used. In a non-parametric distribution, data were expressed as Me (Q1; Q3). When performing statistical processing of the obtained data, nonparametric tests (Mann–Whitney test, when comparing qualitative data — χ2 and Fisher's exact test, odds ratio and relative risk) were used. The value of p <0.05 was taken as a criterion of significance. The nature of the data distribution was assessed using the Kolmogorov–Smirnov test.
Results. Elevated triglyceride levels were detected in 341 (27.66%) patients: 220 (64.5%) women and 121 (35.5%) men. Mild degree of hypertriglyceridemia occured in 42.5% of cases, moderate — in 42.5%, severe — in 7.6%, extremely severe — in 7.4%. The genetic characteristics of patients with hypertriglyceridemia were determined, and 1 previously undescribed variant of the APOE mutation was found.
Conclusion. The most common forms of hypertriglyceridemia were mild and moderate, the most common variants of APOE mutations were p.Cys130Arg and p.Arg176Cys.
Full Text
About the authors
Zulfiya F. Kim
Kazan State Medical University; City Clinical Hospital No. 7
Author for correspondence.
Email: profz@yandex.ru
ORCID iD: 0000-0003-4240-3329
M.D., Сand. Sci. (Med.), Assoc. Prof., Depart. of Internal Medicine No 2; Deputy Head Physician on Medical Affairs
Russian Federation, Kazan, Russia; Kazan, RussiaAlbert S. Galyavich
Kazan State Medical University
Email: agalyavich@mail.ru
ORCID iD: 0000-0002-4510-6197
M.D., D. Sci. (Med.), Prof., Head of Depart., Depart. of Cardiology
Russian Federation, Kazan, RussiaDinara I. Sadykova
Kazan State Medical University
Email: sadykovadi@mail.ru
ORCID iD: 0000-0002-6662-3548
M.D., D. Sci. (Med.), Head of Depart., Depart.of Hospital Pediatrics
Russian Federation, Kazan, RussiaLuiza M. Nurieva
City Clinical Hospital No. 7
Email: nurievaluiza@list.ru
ORCID iD: 0000-0002-1762-9492
M.D., Cardiology Department No. 1
Russian Federation, Kazan, RussiaSabina S. Kim
Kazan State Medical University
Email: sabinakim2004@gmail.com
ORCID iD: 0000-0002-5745-4818
student
Russian Federation, Kazan, RussiaReferences
- Brotons C, Moral I, González J, Fernández D, Puig M, Vilella MT. Epidemiology of hypertriglyceridaemia. Clin Investig Arterioscler. 2021;33(2):7–13. (In English, Spanish.) doi: 10.1016/j.arteri.2020.12.015.
- Virani SS, Morris PB, Agarwala A, Ballantyne CM, Birtcher KK, Kris-Etherton PM, Ladden-Stirling AB, Miller M, Orringer CE, Stone NJ. 2021 ACC Expert Consensus Decision Pathway on the management of ASCVD risk reduction in patients with persistent hypertriglyceridemia: A report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2021;78(9):960–993. doi: 10.1016/j.jacc.2021.06.011.
- Mach F, Baigent C, Catapano AL, Koskinas KС, Casula M, Badimon L, Chapman MJ, De Backer GG, Delgado V, Ference BА, Graham IМ, Halliday A, Landmesser U, Mihaylova B, Pedersen TR, Riccardi G, Richter DJ, Sabatine MS, Taskinen M, Tokgozoglu L, Wiklund O. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Russian Journal of Cardiology. 2020;25(5):3826. (In Russ.) doi: 10.15829/1560-4071-2020-3826.
- Viñals C, Zambón D, Yago G, Domenech M, Ortega E. Secondary hypertriglyceridemia. Clin Investig Arterioscler. 2021;33(2):29–36. doi: 10.1016/j.arteri.2021.02.006.
- Blokhina AV, Ershova AI, Meshkov AN, Drapkina OM. Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder. Cardiovascular therapy and prevention. 2021;20(6):2893. (In Russ.) doi: 10.15829/1728-8800-2021-2893.
- Mach F, Baigent C, Catapano AL, Koskinas KC, Casula M, Badimon L, Chapman MJ, De Backer GG, Delgado V, Ference BA, Graham IM, Halliday A, Landmesser U, Mihaylova B, Pedersen TR, Riccardi G, Richter DJ, Sabatine MS, Taskinen M-R, Tokgozoglu L, Wiklund O; ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). Eur Heart J. 2020;41(1):111–188. doi: 10.1093/eurheartj/ehz455.
- Kukharchuk VV, Ezhov MV, Sergienko IV, Arabi-dze GG, Bubnova MG, Balakhonova TV, Gurevich VS, Kachkovsky MA, Konovalov GA, Konstantinov VO, Malyshev PP, Pokrovsky SN, Sokolov AA, Sumarokov AB, Gornyakova NB, Obrezan AG, Shaposhnik II. Diagnostics and correction of lipid metabolism disorders in order to prevent and treat of atherosclerosis. Russian recommendations, VII revision. The Journal of Atherosclerosis and Dyslipidemias. 2020;(1):7–42. (In Russ.) doi: 10.34687/2219-8202.JAD.2020.01.0002.
- Ezhov MV, Bazhan SS, Ershova AI, Meshkov AN, Sokolov AA, Kukharchuk VV, Gurevich VS, Voevoda MI, Sergienko IV, Shakhtshneider EV, Pokrovsky SN, Konovalov GA, Leontyeva IV, Konstantinov VO, Shcherbakova MYu, Zakharova IN, Balakhonova TV, Filippov AE, Akhmedzhanov NM, Aleksandrova OYu, Lipovetsky BM. Clinical guidelines for familial hypercholesterolemia. Ateroscleroz. 2019;15(1):58–98. (In Russ.) doi: 10.15372/ater20190108.
- The Human Genome Variation Society. www.hgvs.org (access date: 15.12.2022).
- ClinVar. www.ncbi.nlm.nih.gov/clinvar/ (access date: 15.12.2022).
- Вe Pretis N, Amodio A, Frulloni L. Hypertriglyceridemic pancreatitis: Epidemiology, pathophysiology and clinical management. Herald of Pancreatic Club. 2019;42(1):10–17. doi: 10.33149/vkp.2019.01.02.
- Marais AD. Apolipoprotein E and atherosclerosis. Curr Atheroscler Rep. 2021;23(7):34. doi: 10.1007/s11883-021-00933-4.
- Qiao SY, Shang K, Chu YH, Yu HH, Chen X, Qin C, Pan DJ, Tian DS. Apolipoprotein E ε4 polymorphism as a risk factor for ischemic stroke: A systematic review and meta-analysis. Dis Markers. 2022;2022:1407183. doi: 10.1155/2022/1407183.
- Lin Y, Yang Q, Liu Z, Su B, Xu F, Li Y, Kang J, Zhou Z. Relationship between apolipoprotein E genotype and lipoprotein profile in patients with coronary heart disease. Molecules. 2022;27(4):1377. doi: 10.3390/molecules27041377.