Abstract
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.
| Translated title of the contribution | Chronic anemia and unexplained inflammation: think of VEXAS syndrome |
|---|---|
| Original language | Dutch |
| Article number | D7306 |
| Number of pages | 5 |
| Journal | Nederlands Tijdschrift voor Geneeskunde |
| Volume | 167 |
| Publication status | Published - 19-Apr-2023 |