[Chronic anemia and unexplained inflammation: think of VEXAS syndrome]
Paul L A van Daele1,2, Caspar I van der Made3, Helen L Leavis4
1Erasmus MC, afd. Interne Geneeskunde en Immunologie, Rotterdam.
Background:
VEXAS-syndrome is an X-linked acquired multisystemic autoinflammatory disease caused by a somatic mutation in UBA1.
Case Description:
In this manuscript we describe a 79-year-old male suffering from skin lesions, macrocytic anemia and lab results showing inflammation in which, based on finding a mutation in UBA1, VEXAS was diagnosed. He was treated with a combination of high dose corticosteroids and anti-IL-6 with good response.
Conclusion:
In middle aged males presenting with multisystemic inflammation without evidence of infection a diagnosis of VEXAS should be considered, especially if there is evidence of a macrocytic anemia. Early testing for UBA1 mutations helps in making the diagnosis. Despite treatment with intensive immunosuppression mortality remains high.
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