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Un caso de síndrome VEXAS
Stephanie Analytis1, Taha Kothari2, Janavi Wagle3
1Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
Resumen
El síndrome VEXAS, una rara enfermedad autoinflamatoria por mutaciones somáticas de UBA1, presenta desafíos en el diagnóstico y el tratamiento. Este caso destaca la necesidad de una mayor concienciación y comprensión del síndrome VEXAS para mejorar los resultados de los pacientes.
Área de la Ciencia:
- Genética; Inmunología; Reumatología
Sus antecedentes:
- El síndrome VEXAS es una rara enfermedad autoinflamatoria caracterizada por vacuolas, deficiencia de la enzima E1, herencia ligada al cromosoma X y mutaciones somáticas en el gen UBA1.
- Identificado por primera vez en 2020, su prevalencia sigue siendo incierta y faltan pautas de tratamiento establecidas, lo que enfatiza la necesidad de mejorar el reconocimiento de la enfermedad.
Objetivo del estudio:
- Informar un caso de síndrome VEXAS que se presenta con artritis migratoria, acné pustuloso e hidradenitis supurativa.
- Crear conciencia sobre esta condición descrita recientemente y sus desafíos diagnósticos.
Principales métodos:
- Presentación de caso clínico de un hombre afroamericano de 34 años.
- Evaluación clínica y genética, incluida la evaluación de mutaciones en UBA1.
- Revisión de los criterios de diagnóstico y los enfoques de tratamiento para el síndrome VEXAS.
Principales resultados:
- El paciente fue diagnosticado con síndrome PAPASH (un fenotipo del síndrome VEXAS) después de experimentar progresión de la enfermedad.
- El diagnóstico se confirmó mediante pruebas genéticas que identificaron mutaciones en UBA1.
Conclusiones:
- El síndrome VEXAS surge de mutaciones en el gen UBA1, lo que conduce a síntomas autoinflamatorios y hematológicos.
- El diagnóstico es complejo debido a presentaciones variables, lo que requiere biopsia de médula ósea y pruebas genómicas.
- El manejo implica controlar la inflamación con corticosteroides y antagonistas del receptor de IL-6 como el tocilizumab.
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