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Resumen Antecedentes y objetivo La deteccion precoz de la hipercolesterolemia familiar heterocigota (HFH) es necesaria para prevenir eventos cardiovasculares prematuros. Nuestro objetivo es describir el desarrollo de una jornada de deteccion de HF (JHF) en el Area de Gestion Sanitaria Norte de Cadiz (AGSNC) para su cribado en Espana, asi como analizar los datos obtenidos. Pacientes y metodos Estudio transversal de una JHF en cascada a la que acudieron los casos indices (CI) diagnosticados geneticamente y sus familiares de primer y segundo grado subsidiarios de presentar HFH. Se analizaron variables clinicas, sociodemograficas y se recogieron muestras biologicas para estudio genetico. Resultados Se estudiaron 132 sujetos: 21 CI y 111 familiares; 16 eran menores de 18 anos, con una edad media de 11,4 anos (DE: 4,57). De los mayores de 18 anos, el 56% (n = 65) fueron mujeres, con una edad media de 45,2 anos (DE: 15,9). Noventa familiares eran portadores de una mutacion. La edad media de diagnostico de los familiares fue de 25 anos (DE: 17,7), y la de los CI, de 36,4 anos (DE: 17,2); p = 0,01. El tabaquismo activo fue mayor en los familiares que en los CI (26,3% vs 4,8%; p = 0,02) y la presencia de arco corneal en menores de 45 anos era mas frecuente en los CI (47,6% vs 12,6%; p Conclusiones La estrategia de deteccion en cribado identifico al 4% de la poblacion estimada con HF del AGSNC. Esta busqueda activa de HF en los familiares anticipa su diagnostico en 11,4 anos.

Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim isto describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded.Descriptive study of an FH cascade screening program. Index cases (ICs) and their 1st and 2nd grade relatives were appointed during a weekend by the FH Foundation. Venous blood samples were taken from the subjects for genetic, blood, and chemistry tests; specialized medical consultation and physical examination were performed.The study sample consisted of 132 subjects: 21 ICs and 111 relatives (16 under 18years old), with a mean age of 11.4years (SD4.57). Mean age of subjects over 18years was 45.2years. A gene mutation was found in 90 relatives. Mean age at diagnosis was 25years (SD17.7) for relatives and for 36.4years (SD17.2; P=.01) for ICs. Smoking rate was higher in relatives than in ICs (26.3% vs 4.8%; P=.02) and corneal arcus was more common in ICs as compared to relatives (47.6% vs 12.6%; P.001). Prior myocardial infarction was recorded in 14.3% of ICs and 4.2% of relatives respectively (P=.07). Maximum lipid lowering treatment was being administered to 43.1%.The screening detection approach identified the estimated 4% population with HFH in the area, and allows for diagnosing HFH 11.4years earlier.

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 Conclusions 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.

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 target100 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.