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Updated: Sep 5, 2025

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Enfermedad de células falciformes: un repaso

Patricia L Kavanagh1, Titilope A Fasipe2, Ted Wun3

  • 1Division of General Pediatrics, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts.

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|July 5, 2022
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La enfermedad de células falciformes (SCD) es un trastorno sanguíneo hereditario que afecta a 100.000 estadounidenses. Las nuevas terapias ofrecen un mejor manejo para los pacientes con ECS, complementando los trasplantes de hidroxiurea y células madre.

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Área de la Ciencia:

  • Hematología
  • La genética
  • Médico interno

Sus antecedentes:

  • La enfermedad de células falciformes (SCD) es un trastorno hereditario de la hemoglobina que causa células rojas de la sangre en forma de hoz, lo que lleva a daños en los órganos y al aumento de la mortalidad.
  • Se estima que cada año nacen 300.000 niños con ECS en todo el mundo, con una prevalencia significativa en el África subsahariana, la India, el Mediterráneo y el Medio Oriente.

Objetivo del estudio:

  • Revisar la comprensión actual del diagnóstico, las complicaciones y los avances terapéuticos de la enfermedad de células falciformes.
  • Resaltar el panorama evolutivo del tratamiento de la ECS, incluidas las terapias recientemente aprobadas y las intervenciones establecidas.

Principales métodos:

  • Revisión de la literatura sobre el diagnóstico de ECS, las manifestaciones clínicas y los resultados del tratamiento.
  • Análisis de los datos de ensayos clínicos para las terapias novedosas de SCD (L-glutamina, crizanlizumab, voxelotor) y los tratamientos establecidos (hidroxiurea, trasplante de células madre hematopoyéticas).

Principales resultados:

  • La SCD se diagnostica mediante el cribado de recién nacidos o la presentación clínica de anemia y dolor.
  • Las terapias más nuevas como la L-glutamina, el crizanlizumab y el voxelotor han demostrado su eficacia para reducir las hospitalizaciones, las crisis de dolor y mejorar los niveles de hemoglobina.
  • La hidroxiurea sigue siendo la terapia de primera línea, mientras que el trasplante de células madre hematopoyéticas ofrece una cura potencial, pero está limitada por la disponibilidad de donantes.

Conclusiones:

  • El SCD tiene un impacto significativo en la esperanza de vida y la calidad de vida, lo que requiere estrategias de gestión integrales.
  • Las recientes aprobaciones terapéuticas han ampliado las opciones de tratamiento, ofreciendo mejores resultados para las personas con SCD.
  • El trasplante de células madre hematopoyéticas es la única opción curativa, lo que subraya la necesidad de seguir investigando tratamientos efectivos y accesibles.