Consenso de expertos sobre recomendaciones basadas en la evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (XLH)

Introduction: X-linked hypophosphatemic rickets is a hereditary condition causing disruptions in bone mineral homeostasis. The morbidity associated with this condition has exhibited variability in previous decades, possibly stemming from variations in case definitions and diagnostic confirmation procedures. Objective: Our aim was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLH. Methodology: Integration of a literature review with a modified Delphi method, guided by expert consensus. Results: Following the screening and selection of 1041 documents, 41 were chosen to address the queries posed by the developer group. Experts, consulted through a modified Delphi consensus, endorsed 97 recommendations on the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLH. Notably, the quality of the evidence was deemed to be low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up. In addition, it will help clarify the burden of the disease and improve health outcomes for this population.Introducción: el raquitismo hipofosfatémico ligado al cromosoma X es una enfermedad hereditaria que provoca alteraciones en la homeostasis mineral ósea. La morbilidad de este cuadro ha mostrado variabilidad en décadas anteriores e incluso contradicciones, posiblemente debido a la definición del caso y la confirmación diagnóstica. Objetivo: elaborar recomendaciones fundamentadas en evidencia para el diagnóstico, tratamiento y seguimiento de pacientes con sospecha o diagnóstico de XLH. Metodología: revisión de la literatura y consenso de expertos mediante el método Delphi modificado. Resultados: después de llevar a cabo el proceso de tamización y selección de 1,041 documentos, se incorporaron 41 para abordar las preguntas planteadas por el grupo desarrollador. Se obtuvieron 97 recomendaciones sobre el diagnóstico, tratamiento y seguimiento de pacientes con sospecha o diagnóstico de XLH, las cuales fueron aprobadas por expertos consultados mediante un consenso Delphi modificado. Cabe destacar que la calidad de la evidencia fue baja. Conclusiones: las recomendaciones propuestas aquí posibilitarán el diagnóstico temprano y oportuno del raquitismo hipofosfatémico ligado al cromosoma X. Al mismo tiempo, optimizarán la asignación de recursos destinados a su tratamiento y seguimiento, contribuyendo así a dilucidar la carga de enfermedad y a mejorar los resultados de salud en esta población

Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)

Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results: After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population