Pharmacological treatment with lipid-lowering agents after molecular identification of familial hypercholesterolemia: results from the Hipercol Brasil cohort

Background: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by the presence of high levels of total and low-density lipoprotein cholesterol (LDL-C). Statin treatment is recommended for all adults with FH. Objective: Here we have studied the main predictors of the use of lipid-lowering agents at one-year follow-up in a large cohort of FH patients. Methods: Open prospective cohort of individuals resident in Sao Paulo, Brazil who were enrolled in a FH cascade screening program. We used a multivariate logistic regression analysis to determine predictive variables for the non-adherence of lipid-lowering drugs. Results: A total of 1,360 HF participants were included. At the one-year follow-up (T1), the rates of lipid-lowering treatment were 92%, 76%, and 78% from the genetic positive proband (index cases, IC), genetic negative IC and genetic positive first-degree relatives, respectively. Receiving a positive genetic test for FH (OR: 4.85; CI 95%: 2.97 - 7.93, p value < 0.05), use of lipid-lowering treatment at T0 (OR: 5.01; CI 95%: 3.18 - 7.90, p value < 0.05) and age (OR: 1.04; CI 95%: 1.02 - 1.06) were independently associated with the use of a lipid-lowering drug at T1. Conclusion: Index cases with a positive genetic result increase their prevalence of lipid-lowering medication use. Positive relatives did not have the expected adherence; we could notice a significant increase in the prevalence of treatment starting after a positive genetic test. The independent predictors for lipid-lowering treatment were age, a positive genetic test and previous institution of treatment before the genetic test result. (c) 2022 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Automated summary

By conducting a one-year follow-up on patients with familial hypercholesterolemia, we found that those who received a positive genetic test had a higher rate of lipid-lowering drug use, while adherence was lower among positive relatives. Age, positive genetic test, and previous treatment history before the genetic test result were independent predictors for lipid-lowering drug use.