Clinical and genetic variants of hypertriglyceridemia in the practice of a lipidologist

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.