Application of molecular genetics methods in the diagnosis of severe hypertriglyceridemia

Abstract

Severe hypertriglyceridemia (HTG) is a lipid metabolism disorder characterized by an increase in the level of triglycerides (TG) in blood plasma ≥10 mmol/l. The occurrence of pathology is caused by environmental factors, lifestyle and genetic determinants [1]. Using the example of two clinical cases, the article describes the diagnosis of severe HTG using molecular genetic methods, as a result of which variants in the LMF1 and LPL genes were identified. Genetic examination of patients with hypertriglyceridemia contributes to the differential diagnosis of the disease, helps to establish the hereditary nature of the pathology and select therapy.