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

Perez de Isla L1, Alonso R2, Watts GF3, Mata N4, Saltijeral Cerezo A5, Muñiz O6, Fuentes F7, Diaz-Diaz JL8, de Andrés R9, Zambón D10, Rubio-Marin P11, Barba-Romero MA12, Saenz P13, Sanchez Muñoz-Torrero JF14, Martinez-Faedo C15, Miramontes-Gonzalez JP16, Badimón L17, Mata P18; SAFEHEART Investigators.
Collaborators (30)
Aguado R, Almagro F, Arrieta F, Barba MÁ, Brea Á, Cepeda JM, De Andrés R, Díaz G, Díaz JL, Fuentes F, Galiana J, Garrido JA, Irigoyen L, Manjón L, Martin A, Piedecausa M, Martínez-Faedo C, Mauri M, Miramontes P, Muñiz O, Pereyra F, Pérez L, Pintó X, Pujante P, Ruiz E, Sáenz P, Sánchez JF, Vidal JI, Argüeso R, Zambón D.
Author information
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.
Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
LDL-receptor mutations; cardiovascular disease; lipid-lowering therapy; low-density lipoprotein cholesterol
PMID: 26988947 [PubMed - in process]

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