ABSTRACT
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Subject(s)
Humans , Renal Insufficiency, Chronic , Risk , Cardiovascular DiseasesABSTRACT
La enfermedad de Anderson-Fabry es una afección multisistémica progresiva y grave de origen genético que afecta tanto a hombres como a mujeres y que reduce sus expectativas y calidad de vida. La gran variabilidad en su expresión clínica, las dificultades para su diagnóstico y la disponibilidad actual de varias alternativas para su tratamiento suponen un gran reto que justifica la realización de una guía de práctica clínica basada en la evidencia que pueda ayudar a los profesionales sanitarios en la toma de decisiones en el manejo de estos pacientes. Para elaborarla se ha realizado una búsqueda sistemática en las principales bases de datos bibliográficas mediante estrategias adaptadas a cada una de las 32 preguntas clínicas consideradas. Se confeccionaron fichas para la síntesis y evaluación de la calidad de las evidencias para cada una de las preguntas. La metodología empleada se basa en el Manual metodológico español para la elaboración de guías de práctica clínica e incorpora en la evaluación de la evidencia científica y en la elaboración de las recomendaciones la metodología GRADE, considerando la calidad de la evidencia, el balance entre beneficios y riesgos, valores y preferencias de los pacientes, equidad y uso de recursos. Para la elaboración definitiva de las recomendaciones se llevó a cabo un proceso de consenso estructurado basado en la metodología Delphi-RAND en 2 rondas, con un panel de expertos propuesto por diferentes sociedades científicas, centros de investigación y asociaciones de pacientes. Finalmente, se han elaborado 92 recomendaciones específicas para el manejo de la enfermedad de Fabry
Anderson-Fabry disease is a severe progressive multisystem condition of genetic origin that affects men and women, reducing their life expectancy and quality of life. The considerable variability in its clinical expression, the difficulties in diagnosing the condition and the current availability of several alternatives for its treatment represent a considerable challenge that justifies the development of evidence-based clinical practice guidelines that can help health professionals in the decision-making process for managing these patients. To develop these guidelines, we conducted a systematic search of the main reference databases using strategies adapted to each of the 32 clinical questions considered. We prepared documents to synthesise the evidence and assess its quality for each of the questions. The methodology employed is based on the Spanish methodology manual for preparing clinical practice guidelines, incorporating the GRADE methodology in the assessment of the scientific evidence and the preparation of the recommendations, considering the quality of the evidence, the risk-benefit balance, patient values and preferences, equity and use of resources. For the definitive preparation of the recommendations, we conducted a structured consensus process based on the Delphi-RAND methodology in 2 rounds, with an expert panel proposed by various scientific societies, research centres and patient associations. Ultimately, we developed 92 specific recommendations for managing Fabry disease
Subject(s)
Humans , Adult , Fabry Disease/diagnosis , Fabry Disease/therapy , Mass Screening/methods , Evidence-Based Practice/methods , Genetic Testing/methods , Fabry Disease/physiopathology , Clinical Enzyme Tests/methods , Genotyping Techniques/methods , Biological Variation, PopulationABSTRACT
Anderson-Fabry disease is a severe progressive multisystem condition of genetic origin that affects men and women, reducing their life expectancy and quality of life. The considerable variability in its clinical expression, the difficulties in diagnosing the condition and the current availability of several alternatives for its treatment represent a considerable challenge that justifies the development of evidence-based clinical practice guidelines that can help health professionals in the decision-making process for managing these patients. To develop these guidelines, we conducted a systematic search of the main reference databases using strategies adapted to each of the 32 clinical questions considered. We prepared documents to synthesise the evidence and assess its quality for each of the questions. The methodology employed is based on the Spanish methodology manual for preparing clinical practice guidelines, incorporating the GRADE methodology in the assessment of the scientific evidence and the preparation of the recommendations, considering the quality of the evidence, the risk-benefit balance, patient values and preferences, equity and use of resources. For the definitive preparation of the recommendations, we conducted a structured consensus process based on the Delphi-RAND methodology in 2 rounds, with an expert panel proposed by various scientific societies, research centres and patient associations. Ultimately, we developed 92 specific recommendations for managing Fabry disease.
ABSTRACT
La hipertensión arterial es uno de los principales factores de riesgo para el desarrollo de enfermedades cardiovasculares, tales como insuficiencia cardíaca, cardiopatía isquémica, enfermedad renal crónica y accidentes cerebro vasculares. Un adecuado control de la presión arterial es de vital importancia para el manejo de los enfermos con patología vascular. Para mejorar el grado de control de la presión arterial en estos pacientes, están apareciendo en el horizonte nuevas alternativas terapéuticas, tales como los inhibidores directos de la renina, betabloqueantes con propiedades adicionales, dispositivos estimuladores de los receptores carotídeos y la vacunación frente a la hipertensión arterial. Los inhibidores directos de la renina son una nueva familia de fármacos antihipertensivos que, hasta el momento, han mostrado tener un buen efecto antihipertensivo y un efecto aditivo sobre la reducción de la proteinuria en pacientes con nefropatía diabética. Recientes meta-análisis sugieren que los betabloqueantes podrían tener un menor efecto beneficioso sobre el desarrollo de enfermedad cardiovascular empleados como primera línea del tratamiento de la hipertensión arterial no complicada comparados con otros fármacos antihipertensivos. Sin embargo, la aparición de(..) (AU)
Arterial hypertension is one of the major risk factors for the development of cardiovascular diseases such as heart failure, ischemic heart disease, chronic kidney disease and cerebrovascular events. Adequate blood pressure control is vital for the management of patients with vascular disease. New therapeutic alternatives are appearing on the horizon to improve the degree of blood pressure control in these patients, such as direct renin inhibitors, beta-blockers with additional properties, carotid receptor-stimulating devices and vaccination against arterial hypertension. Direct renin inhibitors are a new family of antihypertensive drugs that have so far shown a good antihypertensive effect and an additive effect on reduction of proteinuria in patients with diabetic nephropathy. Recent meta-analyses suggest that betablockers used as first-line treatment for uncomplicated arterial hypertension could have a less beneficial effect on the development of cardiovascular disease than other antihypertensive drugs. However, the emergence of new subtypes of beta-blockers with other hemodynamic and metabolic properties could change this conception. Carotid receptor-stimulating devices and vaccination against arterial hypertension, although not totally new therapies, are being revitalized, with preliminary results that suggest that they could be used for the treatment of arterial hypertension in patients with a specific profile. Although scientifically stimulating, the long-term beneficial effects of these new therapeutic alternatives on target-organ protection still need to be confirmed (AU)
Subject(s)
Humans , Hypertension/drug therapy , Antihypertensive Agents/therapeutic use , Renin/antagonists & inhibitors , Adrenergic beta-Antagonists/therapeutic use , Carotid Sinus , Vaccines/administration & dosage , Hydrochlorothiazide/therapeutic useABSTRACT
Arterial hypertension is one of the major risk factors for the development of cardiovascular diseases such as heart failure, ischemic heart disease, chronic kidney disease and cerebrovascular events. Adequate blood pressure control is vital for the management of patients with vascular disease. New therapeutic alternatives are appearing on the horizon to improve the degree of blood pressure control in these patients, such as direct renin inhibitors, beta-blockers with additional properties, carotid receptor- stimulating devices and vaccination against arterial hypertension. Direct renin inhibitors are a new family of antihypertensive drugs that have so far shown a good antihypertensive effect and an additive effect on reduction of proteinuria in patients with diabetic nephropathy. Recent meta-analyses suggest that betablockers used as first-line treatment for uncomplicated arterial hypertension could have a less beneficial effect on the development of cardiovascular disease than other antihypertensive drugs. However, the emergence of new subtypes of beta-blockers with other hemodynamic and metabolic properties could change this conception. Carotid receptor-stimulating devices and vaccination against arterial hypertension, although not totally new therapies, are being revitalized, with preliminary results that suggest that they could be used for the treatment of arterial hypertension in patients with a specific profile. Although scientifically stimulating, the long-term beneficial effects of these new therapeutic alternatives on target-organ protection still need to be confirmed.
