Programa de cribado en cascada para la detección de la hipercolesterolemia familiar / Cascade screening program for familial hypercholesterolemia

Antecedentes y objetivo: La detección precoz de la hipercolesterolemia familiar heterocigota (HFH) es necesaria para prevenir eventos cardiovasculares prematuros. Nuestro objetivo es describir el desarrollo de una jornada de detección de HF (JHF) en el Área de Gestión Sanitaria Norte de Cádiz (AGSNC) para su cribado en España, así como analizar los datos obtenidos. Pacientes y métodos: Estudio transversal de una JHF en cascada a la que acudieron los casos índices (CI) diagnosticados genéticamente y sus familiares de primer y segundo grado subsidiarios de presentar HFH. Se analizaron variables clínicas, sociodemográficas y se recogieron muestras biológicas para estudio genético. Resultados: Se estudiaron 132 sujetos: 21 CI y 111 familiares; 16 eran menores de 18años, con una edad media de 11,4años (DE: 4,57). De los mayores de 18años, el 56% (n=65) fueron mujeres, con una edad media de 45,2años (DE: 15,9). Noventa familiares eran portadores de una mutación. La edad media de diagnóstico de los familiares fue de 25años (DE: 17,7), y la de los CI, de 36,4años (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 45años era más frecuente en los CI (47,6% vs 12,6%; p<0,001). El 14,3% de CI habían presentado un infarto de miocardio vs el 4,2% de los familiares; p=0,07. El 43,1% estaban con máximo tratamiento hipolipemiante oral. Conclusiones: La estrategia de detección en cribado identificó al 4% de la población estimada con HF del AGSNC. Esta búsqueda activa de HF en los familiares anticipa su diagnóstico en 11,4años

Introduction and objective: 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. Subjects and methods: 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. Results: 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%. Conclusions: The screening detection approach identified the estimated 4% population with HFH in the area, and allows for diagnosing HFH 11.4years earlier

Cascade screening program for familial hypercholesterolemia. / Programa de cribado en cascada para la detección de la hipercolesterolemia familiar.

INTRODUCTION AND OBJECTIVE: 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. SUBJECTS AND METHODS: 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. RESULTS: 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%. CONCLUSIONS: The screening detection approach identified the estimated 4% population with HFH in the area, and allows for diagnosing HFH 11.4years earlier.