Síndrome VEXAS: O que Sabemos Dois Anos Após a sua Descoberta?
DOI:
https://doi.org/10.24950/rspmi.2208Palavras-chave:
Enzimas Ativadoras de Ubiquitina, Inflamação, Síndromes Mielodisplásicas, Síndrome VEXASResumo
A síndrome VEXAS (vacúolos, enzima E1, cromossoma X, autoinflamação, mutação somática) foi identificada em
2020 por Beck et al, ao analisar o genoma de 2560 doentes
com diferentes tipos de manifestações autoinflamatórias.
Fizemos uma revisão da literatura com o objetivo de divulgar a evidência científica existente e aumentar o grau de suspeição clínica da comunidade médica.
Atualmente, estão identificadas várias mutações associadas
a esta síndrome, originando defeitos na ubiquitinação e ativação do sistema imune inato. Da análise fenotípica dos portadores da mutação, foram encontradas características
comuns: sexo masculino, idade superior a 50 anos, citopenias, febre e sintomas constitucionais, podendo estar
envolvidos todos os órgãos e sistemas com manifestações
e proporções variáveis. A natureza inflamatória e multissistémica desta doença representa uma dificuldade acrescida no seu diagnóstico e tratamento, cursando com elevada morbimortalidade. Atualmente, os tratamentos com maior eficácia demonstrada são corticoterapia, azacitidina, inibidores da JAK-1/2 e inibidores da interleucina-6, parecendo também existir benefício com o transplante autólogo de células estaminais.
Tendo em conta a sua identificação recente e baixo número
de doentes diagnosticados, a maioria dos estudos disponíveis apresentam limitações relacionadas com a metodologia e curta duração de seguimento, imperando a necessidade de ensaios clínicos prospetivos de modo a definir as melhores estratégias terapêuticas e melhorar o prognóstico destes doentes.
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Referências
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Direitos de Autor (c) 2024 Medicina Interna
Este trabalho encontra-se publicado com a Licença Internacional Creative Commons Atribuição 4.0.
Direitos de Autor (c) 2023 Medicina Interna
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