Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia 5-Year SAFEHEART Registry Follow-Up

Abstract

BACKGROUND Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data on attainment of treatment targets; large registries that reflect real-life clinical practice can uniquely provide this information.OBJECTIVES We sought to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients enrolled in a large national registry.METHODS The SAFEHEART study (Spanish Familial Hypercholesterolemia Cohort Study) is a large, ongoing registry of molecularly defined patients with heterozygous FH treated in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was investigated in relation to use of lipid-lowering therapy (LLT).RESULTS The study recruited 4,132 individuals (3,745 of whom were >= 18 years of age); 2,752 of those enrolled were molecularly diagnosed FH cases. Mean follow-up was 5.1 +/- 3.1 years; 71.8% of FH cases were on maximal LLT, and an LDL-C treatment target = 18 years of age); 2,752 of those enrolled were molecularly diagnosed FH cases. Mean follow-up was 5.1 +/- 3.1 years; 71.8% of FH cases were on maximal LLT, and an LDL-C treatment target <100 mg/dl was reached by only 11.2% of patients. At follow-up, there was a significant increasein the use of ezetimibe, drug combinations with statins, and maximal LLT. The presence of type 2 diabetes mellitus, adefective allele mutation, ezetimibe use, and the absence of previous ASCVD were predictors of the attainment ofLDL-C goals. CONCLUSIONS Despite the use of intensified LLT, many FH patients continue to experience high plasma LDL-C levelsand, consequently, do not achieve recommended treatment targets. Type of LDL-receptor mutation, use of ezetimibe,coexistent diabetes, and ASCVD status can bear significantly on the likelihood of attaining LDL-C treatment goals.