Neurological manifestations in patients with VEXAS syndrome.
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Bert-Marcaz Charlotte, Fortanier Étienne, Briantais Antoine, Faucher Benoit, Bourguiba Rim, Swiader Laure, Schleinitz Nicolas, Corazza Giovanni, Jean Rodolphe, Bigot Adrien, Marianetti-Guingel Paola, Kostine Marie, Outh Roderau, Dieudonné Yannick, Lazaro Estibaliz, Vial Guillaume, Palat Sylvain, Frachet Simon, De Almeida Chaves Sébastien, Vinzio Stéphane, Sacré Karim, Robert Marie, Comont Thilbault, Dion Jérémie, Girardie Pierre, Lacombe Valentin, Langlois Vincent, Jachiet Vincent, Decker Paul, Moulinet Thomas, Grosleron Sylvie, Broner Jonathan, Guilpain Philippe, Samson Maxime, Terrier Benjamin, Georgin-Lavialle Sophie, Attarian Sharham, Mekinian Arsène, Delmont Emilien, Ebbo Mikael, FRENVEX, MINHEMON, FILNEMUS
Аннотация
METHODS: Retrospective multicentre study including patients with VEXAS syndrome from the French VEXAS Registry between November 2020 and March 2023. Additional cases were included after a national call for observations. Each patient with confirmed UBA1 somatic mutation and neurological manifestation was reviewed during multidisciplinary meetings. Clinical, radiological, biological characteristics, treatments, and outcome were described.
RESULTS: Of the 291 patients included in the French VEXAS Registry, 17 (6%) had central (CNS) or peripheral (PNS) neurological involvement, with 13 additional cases identified by the national call. Of the 30 patients included, 21 (70%) had PNS involvement and 9 (30%) CNS involvement. PNS involvements included polyneuropathy (n = 9), cranial nerve involvement (n = 7), non-length-dependent polyneuropathy (n = 5) and multiple mononeuropathy (n = 3). CNS involvements included encephalopathy (n = 6), lacunar cerebral infarcts (n = 4), posterior reversible encephalopathy syndrome (n = 3) and optic perineuritis (n = 2). Most neurological manifestations were improved by steroids (68%), steroid-sparing agents were used in 90% [most frequently ruxolitinib (n = 11), azacitidine (n = 8), tocilizumab (n = 4)], and mortality was 30% after a median follow-up of 4 years.
CONCLUSIONS: Neurological manifestations may occur in a small but possibly underestimated proportion of patients with VEXAS syndrome, are heterogeneous and can involve both PNS and CNS.