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[El 511o caso: anemia severa con aumento de los sideroblastos anillados]

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Inicialmente, la anemia severa fue diagnosticada erróneamente como síndrome mielodisplásico, pero en realidad fue anemia sideroblástica inducida por el alcohol. El tratamiento con vitamina B6 resolvió rápidamente la condición, enfatizando la necesidad de excluir causas reversibles.

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Área de la Ciencia:

  • Hematología
  • Médico interno
  • Toxicología

Sus antecedentes:

  • La anemia sideroblástica (AS) es un grupo de trastornos caracterizados por una eritropoyesis ineficaz y una acumulación de hierro en los precursores eritroides.
  • Los síndromes mielodisplásicos con sideroblastos de anillo (MDS-RS) son una causa común de SA, a menudo asociada con mutaciones somáticas como SF3B1.
  • El abuso del alcohol es una causa reversible reconocida, aunque a veces pasada por alto.

Objetivo del estudio:

  • Para reportar un caso de anemia grave inicialmente diagnosticado como MDS-RS que finalmente fue atribuido a la SA inducida por el alcohol.
  • Destacar la importancia de una historia clínica exhaustiva del paciente, incluido el consumo de alcohol, en el diagnóstico de la SA.
  • Discutir los desafíos de diagnóstico y las implicaciones del tratamiento en casos de SA no clonal.

Principales métodos:

  • Estudio de diagnóstico completo que incluye morfología de la médula ósea, pruebas genéticas SF3B1, estudios de metabolismo del hierro y resonancia magnética hepática.
  • Tratamiento inicial con luspatercept para el supuesto MDS-RS.
  • Terapia posterior con vitamina B6 tras la identificación de un historial de consumo excesivo de alcohol.
  • Monitoreo de los niveles de hemoglobina y respuesta clínica.

Principales resultados:

  • El paciente presentaba anemia grave (HGB 35 g/ L) y un 24% de sideroblastos en anillo, tratados inicialmente como MDS-RS con luspatercept.
  • La recaída ocurrió después de 10 meses de tratamiento con luspatercept. El historial retrospectivo reveló un consumo excesivo de alcohol.
  • El tratamiento con vitamina B6 condujo a un aumento rápido y sostenido de la hemoglobina (85 g/ l en 10 días, 134 g/ l en 1 mes), lo que confirma la SA inducida por el alcohol.
  • La resonancia magnética del hígado mostró una sobrecarga significativa de hierro (T2* 1,1 ms).

Conclusiones:

  • En la anemia sideroblástica que carece de evidencia clonal, las causas reversibles como el alcoholismo deben ser excluidas antes de atribuir a MDS.
  • Luspatercept mostró una eficacia transitoria, pero puede enmascarar la etiología subyacente en la SA no clonal.
  • El SA alcohólico requiere un control cuidadoso de la sobrecarga de hierro y un tratamiento de quelación de hierro oportuno para prevenir complicaciones hepáticas.