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Policitemia vera y síndrome de la persona rígida: reporte de un caso
Haixia Mu1, Fengxia Ji1, Rongfeng Du1
1Department of Hematology, Laizhou People's Hospital, No. 1718 Wuli Street, Yantai, Shandong, 261400, China.
BMC neurology
|January 24, 2026
Resumen
Este informe detalla la primera ocurrencia simultánea de Policitemia Vera (PV) y Síndrome de la Persona Rígida (SPR) en un paciente masculino. El caso resalta los desafíos diagnósticos y las posibles vías moleculares compartidas entre estas raras afecciones.
Área de la Ciencia:
- Hematología; Neurología; Inmunología
Sus antecedentes:
- La Policitemia Vera (PV) es una neoplasia mieloproliferativa asociada con un mayor riesgo de trombosis.; El Síndrome de la Persona Rígida (SPR) es un trastorno autoinmune raro que causa rigidez muscular y espasmos debido a un desequilibrio de neurotransmisores.
Objetivo del estudio:
- Presentar el primer caso conocido de Policitemia Vera y Síndrome de la Persona Rígida simultáneos.; Explorar los desafíos diagnósticos y terapéuticos que presenta esta coexistencia.
Principales métodos:
- Reporte de caso de un paciente masculino de mediana edad que presenta síntomas de PV y SPR.; El estudio diagnóstico incluyó la evaluación de eritrocitosis, mutación JAK2 V617F y anticuerpos anti-GAD65.; El tratamiento implicó una terapia progresivamente intensificada hasta la resolución de los síntomas.
Principales resultados:
- El paciente presentó eritrocitosis incidental, rigidez de espalda y espasmos abdominales.; Se confirmó una alta carga de mutación JAK2 V617F y anticuerpos anti-GAD65 positivos.; Se logró un manejo exitoso de los síntomas mediante terapia intensificada.
Conclusiones:
- Este caso subraya las complejidades diagnósticas y terapéuticas de la coexistencia de PV y SPR.; Destaca la necesidad de una mayor investigación sobre los posibles mecanismos moleculares compartidos entre PV y SPR.
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