Síndrome de Gilbert: Revisión bibliográfica dirigida a los métodos de diagnóstico
DOI:
https://doi.org/10.33448/rsd-v12i4.40829Palabras clave:
Síndrome de Gilbert; Hiperbilirrubinemia; UGT1A1.Resumen
El síndrome de Gilbert es una condición de herencia autosómica dominante con penetrancia incompleta caracterizada por hiperbilirrubinemia no conjugada, poco aumentada, crónica y no asociada a enfermedad hepática o hemólisis. Los portadores del síndrome presentan un trastorno de la glucuronidación de la bilirrubina y la consiguiente hiperbilirrubinemia indirecta, resultado de una mutación en el gen UGT1A1. Suele manifestarse entre el periodo postpuberal y los 20 años de edad. Los síntomas suelen aparecer tras el ejercicio físico, periodos de ayuno y en condiciones infecciosas. La mayoría de los pacientes son asintomáticos, y en algunos el único signo es la ictericia. El diagnóstico viene dado por el aumento de la concentración de bilirrubina sérica, que raramente supera los 3 mg/dL, además de la anamnesis y la exploración física dirigida. En el examen físico es fundamental investigar la presencia de telangiectasia (araña vascular), contractura de Dupuytren (mano en garra), ginecomastia y ascitis con la intención de descartar cirrosis hepática. También es necesario asegurarse de la ausencia de masa palpable en el cuadrante superior derecho, ya que podría sugerir patología biliar que justifique la ictericia obstructiva. El síndrome de Gilbert tiene un carácter benigno con pronóstico y evolución favorables, y el diagnóstico clínico es lo más importante.
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