Awareness of positive genetic testing for familial hypercholesterolemia encourages better adherence to triple-combined lipid-lowering therapy

Abstract

Background and Aims : To assess the impact of awareness of genetic testing for familial hypercholesterolemia (FH) on the adherence to the lipid-lowering therapy (LLT).Methods: Patients ≥18 y.o. with “probable” or “definite” FH according to the DLCN criteria were included (n=82). The study consists of three visits (follow-up is 6 months) with a block randomization with a 2:1 allocation ratio (with: without genetic testing). The results of genetic testing were reported at the second visit. Patients were divided into 3 groups: I - with "positive" genetic testing (n=38); II - with "negative" genetic testing (n=19); III - without genetic testing (n=25). Fisher's test was used for statistical analysis. The study was registered on ClinicalTrials (NCT04656028).Results: Individuals with FH variants knew more often their LDL-C target level (61.1% at visit 3 vs 26.3% at visit 2; p=0.004) and comparing with group II (17.6%) by visit 3 (p=0.006). There was no difference in the proportion of patients taking combined LLT (statin+ezetimibe+PCSK9i) at the first visit (5.3% at groups I and II, 12.0% at group III; p=0.556) and in the frequencies of its prescribing at the second visit (70.3% at group I, 52.6% at group II and 56.0% at group III; p=0.326). Only patients with FH variants began to take the combined LLT significantly more often by visit 3 (43.2% vs 5.3% at visit 1 (p <0.001)).Conclusions: Knowledge of positive genetic testing for FH contributes to a better knowing of the LDL-C target level and better adherence to the triple-combined LLT. Background and Aims : To assess the impact of awareness of genetic testing for familial hypercholesterolemia (FH) on the adherence to the lipid-lowering therapy (LLT). Methods: Patients ≥18 y.o. with “probable” or “definite” FH according to the DLCN criteria were included (n=82). The study consists of three visits (follow-up is 6 months) with a block randomization with a 2:1 allocation ratio (with: without genetic testing). The results of genetic testing were reported at the second visit. Patients were divided into 3 groups: I - with "positive" genetic testing (n=38); II - with "negative" genetic testing (n=19); III - without genetic testing (n=25). Fisher's test was used for statistical analysis. The study was registered on ClinicalTrials (NCT04656028). Results: Individuals with FH variants knew more often their LDL-C target level (61.1% at visit 3 vs 26.3% at visit 2; p=0.004) and comparing with group II (17.6%) by visit 3 (p=0.006). There was no difference in the proportion of patients taking combined LLT (statin+ezetimibe+PCSK9i) at the first visit (5.3% at groups I and II, 12.0% at group III; p=0.556) and in the frequencies of its prescribing at the second visit (70.3% at group I, 52.6% at group II and 56.0% at group III; p=0.326). Only patients with FH variants began to take the combined LLT significantly more often by visit 3 (43.2% vs 5.3% at visit 1 (p <0.001)). Conclusions: Knowledge of positive genetic testing for FH contributes to a better knowing of the LDL-C target level and better adherence to the triple-combined LLT.