Síndrome de Hipermovilidad Articular y/o Síndrome de Ehlers-Danlos Hiperlaxo: de la clínica a la genómica
Keywords:
Síndrome de Hiperlaxitud Articular, HSD, Síndrome de Ehlers Danlos hipermóvil, diagnóstico, genómica, bases moleculares, variantes patogénicasAbstract
Entre las enfermedades reumatológicas raras se encuentra el Síndrome de Ehlers Danlos de tipo hipermóvil. Desde finales del pasado siglo hasta 2017 los criterios diagnósticos para la misma fueron inespecíficos y se encontraban solapados con los del Síndrome de Hipermovilidad Articular «benigno». En el mencionado año la Sociedad Internacional Ehler Danlos estableció nuevos criterios diagnósticos más estrictos basados en la clínica para eliminar esta ambiguedad. Hoy día la etiología molecular del trastorno continúa desconocida. Los últimos hallazgos moleculares obtenidos mediante técnicas de Next Generation Sequencing apuntan a genes relacionados con la formación de las fibrillas de colágeno y la matriz extracelular como: MUC3A, RHBG, ZNF717, COL3A1, LZTS1, TPSAB1, TNXB, TNXA. CYP21A2, FLNA, FLNB y DSB. Se recomienda el uso de herramientas genómicas como la secuenciación exómica completa en combinación con la clínica para un diagnóstico más preciso de los pacientes.
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