Efficacy of lipid-lowering therapy in patients with genetically confirmed familial hypercholesterolemia

Aim. To evaluate the effectiveness of lipid-lowering therapy (LLT) in patients with genetically confirmed familial hypercholesterolemia (FH). Material and methods. The study included 140 patients with genetically confirmed FH, followed at the Lipid Center of the National Medical Research Center for Therapy and Preventive Medicine. Participants ranged in age from 19 to 80 years. Lipid profile parameters, clinical and genetic data were analyzed. Results. In 89% of the patients studied, a variant in the LDLR gene was identified as the cause of FH, while in 11%, a variant in the APOB gene was identified. No variants in the PCSK9 gene were detected. High penetrance of the identified FH variants was demonstrated. In patients with a LDLR gene, low-density lipoprotein cholesterol (LDL-C) levels without LLT (median [interquartile range] 8,49 [7,43; 9,31] mmol/L) were higher than in patients with a variant in the APOB gene (7,55 [6,22; 8,33] mmol/L) (p