Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia

• Published in: Journal of the American College of Cardiology Vol. 67; no. 11; pp. 1278 - 1285
• Main Authors: Perez de Isla, Leopoldo, Alonso, Rodrigo, Watts, Gerald F., Mata, Nelva, Saltijeral Cerezo, Adriana, Muñiz, Ovidio, Fuentes, Francisco, Diaz-Diaz, José Luís, de Andrés, Raimundo, Zambón, Daniel, Rubio-Marin, Patricia, Barba-Romero, Miguel A., Saenz, Pedro, Sanchez Muñoz-Torrero, Juan F., Martinez-Faedo, Ceferino, Miramontes-Gonzalez, José P., Badimón, Lina, Mata, Pedro, Aguado, Rocío, Almagro, Fátima, Arrieta, Francisco, Barba, Miguel Ángel, Brea, Ángel, Cepeda, Jose María, De Andrés, Raimundo, Díaz, Gonzalo, Díaz, José L., Galiana, Jesús, Garrido, Juan Antonio, Irigoyen, Luis, Manjón, Laura, Martin, Alberto, Piedecausa, Mar, Martínez-Faedo, Ceferino, Mauri, Marta, Miramontes, Pablo, Pereyra, Francisca, Pérez, Leire, Pintó, Xavier, Pujante, Pedro, Ruiz, Enrique, Sáenz, Pedro, Sánchez, Juan F., Vidal, Jose I., Argüeso, Rosa
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 22.03.2016
• Subjects: Cardiovascular; cardiovascular disease; LDL-receptor mutations; lipid-lowering therapy; low-density lipoprotein cholesterol; cardiovascular disease; apo; T2DM; FH; OR; ASCVD; LDL-C; low-density lipoprotein cholesterol; CI; LDL-CLp(a); LDL-receptor mutations; IQR; Lp(a); TC; HDL-C; lipid-lowering therapy; TG; LLT; DNA; LDLR; apolipoprotein; low-density lipoprotein receptor; atherosclerotic cardiovascular disease; interquartile range; odds ratio; total cholesterol; lipoprotein (a); deoxyribonucleic acid; high-density lipoprotein cholesterol; type 2 diabetes mellitus; LDL-C Lp(a); triglycerides; heterozygous familial hypercholesterolemia; cholesterol adjusted by cholesterol content of lipoprotein (a); confidence interval
• ISSN: 0735-1097; 1558-3597
• DOI: 10.1016/j.jacc.2016.01.008

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. We sought to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients enrolled in a large national registry. 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). 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 <100 mg/dl was reached by only 11.2% of patients. At follow-up, there was a significant increase in the use of ezetimibe, drug combinations with statins, and maximal LLT. The presence of type 2 diabetes mellitus, a defective allele mutation, ezetimibe use, and the absence of previous ASCVD were predictors of the attainment of LDL-C goals. Despite the use of intensified LLT, many FH patients continue to experience high plasma LDL-C levels and, 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.