Work

VEXAS syndrome in a Moroccan patient: the story of a two-year diagnostic lag

Year: 2025

Type: article

Abstract: Background: VEXAS syndrome, also known as vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome, is a newly identified genetic condition characterised by a combination of autoinflammatory symptoms and myeloid dysplasia. The initial description was documented in 2020 and since then, there has been an increasing number of cases and series reported globally. Case description: We present a case of VEXAS syndrome in an 88-year-old male patient. The patient has a p.Met41Val mutation in the UBA1 gene with notable skin, joint and lung involvement. As far as we know, this is the first documentation of VEXAS syndrome in Morocco and Africa. This condition may exhibit characteristics of recurrent fever, neutrophilic dermatitis, arthritis and chondritis, along with cytopaenias and myelodysplastic syndrome. The p.Met41Val mutation is known to be associated with severe clinical presentation and poor prognosis, with less chondritis involvement and more undifferentiated inflammatory syndrome, as seen in the described case. Conclusions: VEXAS syndrome represents a prototype for a new classification of diseases, although it is still insufficiently identified in many underdeveloped countries, especially in Africa. It should be considered in elderly males with unexplained fever associated with systemic manifestations and worsening haematologic abnormalities. LEARNING POINTS: This is the first documentation of VEXAS syndrome in Morocco and Africa, underscoring the technical challenges in the diagnosis of VEXAS disease in this part of the world.Fever and myelodysplastic syndrome in adults should suggest the diagnosis of VEXAS syndrome.A p.Met41Val mutation in the UBA1 gene is related to an increased mortality.

Source: European Journal of Case Reports in Internal Medicine

DOI: 10.12890/2025_005419