<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0872-671X</journal-id>
<journal-title><![CDATA[Medicina Interna]]></journal-title>
<abbrev-journal-title><![CDATA[Medicina Interna]]></abbrev-journal-title>
<issn>0872-671X</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Medicina Interna]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-671X2024000100023</article-id>
<article-id pub-id-type="doi">10.24950/rspmi.2208</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Síndrome VEXAS: O que Sabemos Dois Anos Após a sua Descoberta?]]></article-title>
<article-title xml:lang="en"><![CDATA[VEXAS Syndrome: What do we Know Two Years After its Discovery?]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ferreira]]></surname>
<given-names><![CDATA[Beatriz S.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ribeiro]]></surname>
<given-names><![CDATA[Margarida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Machado]]></surname>
<given-names><![CDATA[Andreia S.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Dionísio]]></surname>
<given-names><![CDATA[Antony]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Roldão]]></surname>
<given-names><![CDATA[Marta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Araújo]]></surname>
<given-names><![CDATA[Inês F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fonseca]]></surname>
<given-names><![CDATA[Cândida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar de Lisboa Ocidental Serviço de Medicina Interna ]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidade Nova de Lisboa NOVA Medical School, Faculdade de Ciências Médicas ]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>03</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>03</month>
<year>2024</year>
</pub-date>
<volume>31</volume>
<numero>1</numero>
<fpage>23</fpage>
<lpage>28</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-671X2024000100023&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-671X2024000100023&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-671X2024000100023&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo 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.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was identified in 2020 by Beck et al, when analyzing the genome of 2560 patients with different types of autoinflammatory manifestations. A literature review was carried out with the aim of disseminating existing scientific evidence and increasing the degree of clinical suspicion of the medical community. Currently, many mutations associated with this syndro-me have been identified, causing defects in the ubiquitylation and activation of the innate immune system. From the phenotypic analyses of the mutation carriers, some common features were found: male, over 50 years old, cytopenias, fever and constitutional symptoms, and all organs and systems with variable manifestations and proportions may be involved. The inflammatory and multi-systemic nature of this disease leads to a diagnostic and treatment challenge, adding to the already existing high morbimortality. Presently, the treatments with greater efficiency are corticosteroid therapy, azacytidine, JAK-1/2 inhibitors and interleukin-6 inhibitors. There are also benefits in autologous stem cell transplants. Given its recent identification and low number of diagnosed patients, most available studies have limitations related to the methodology and short duration of follow-up, prevailing the need for prospective clinical trials in order to define the best therapeutic strategies and to improve these patients&#8217; prognosis.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Enzimas Ativadoras de Ubiquitina]]></kwd>
<kwd lng="pt"><![CDATA[Inflamação]]></kwd>
<kwd lng="pt"><![CDATA[Síndromes Mielodisplásicas]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome VEXAS.]]></kwd>
<kwd lng="en"><![CDATA[Inflammation]]></kwd>
<kwd lng="en"><![CDATA[Myelodysplastic Syndromes]]></kwd>
<kwd lng="en"><![CDATA[UbiquitinActivating Enzymes]]></kwd>
<kwd lng="en"><![CDATA[VEXAS Syndrome.]]></kwd>
</kwd-group>
</article-meta>
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