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Background <p>VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described syndrome linked to somatic mutations in the UBA1 gene, causing systemic autoinflammatory manifestations. To date, few data are available concerning neurological manifestations. The aim of this study was to describe their prevalence, clinical spectrum and outcome under treatment.</p> Methods <p>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.</p> Results <p>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 (<i>n</i> = 9), cranial nerve involvement (<i>n</i> = 7), non-length-dependent polyneuropathy (<i>n</i> = 5) and multiple mononeuropathy (<i>n</i> = 3). CNS involvements included encephalopathy (<i>n</i> = 6), lacunar cerebral infarcts (<i>n</i> = 4), posterior reversible encephalopathy syndrome (<i>n</i> = 3) and optic perineuritis (<i>n</i> = 2). Most neurological manifestations were improved by steroids (68%), steroid-sparing agents were used in 90% [most frequently ruxolitinib (<i>n</i> = 11), azacitidine (<i>n</i> = 8), tocilizumab (<i>n</i> = 4)], and mortality was 30% after a median follow-up of 4 years.</p> Conclusions <p>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.</p>

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Neurological manifestations in patients with VEXAS syndrome

  • 期刊论文

  • 发表日期：

    2025年2月1日

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  • Charlotte Bert-Marcaz,
  • Étienne Fortanier,
  • Antoine Briantais,
  • Benoit Faucher,
  • Rim Bourguiba,
  • Laure Swiader,
  • Nicolas Schleinitz,
  • Giovanni Corazza,
  • Rodolphe Jean,
  • Adrien Bigot,
  • Paola Marianetti-Guingel,
  • Marie Kostine,
  • Roderau Outh,
  • Yannick Dieudonné,
  • Estibaliz Lazaro,
  • Guillaume Vial,
  • Sylvain Palat,
  • Simon Frachet,
  • Sébastien De Almeida Chaves,
  • Stéphane Vinzio,
  • Karim Sacré,
  • Marie Robert,
  • Thilbault Comont,
  • Jérémie Dion,
  • Pierre Girardie,
  • Valentin Lacombe,
  • Vincent Langlois,
  • Vincent Jachiet,
  • Paul Decker,
  • Thomas Moulinet,
  • Sylvie Grosleron,
  • Jonathan Broner,
  • Philippe Guilpain,
  • Maxime Samson,
  • Benjamin Terrier,
  • Sophie Georgin-Lavialle,
  • Sharham Attarian,
  • Arsène Mekinian,
  • Emilien Delmont,
  • Mikael Ebbo,
  • Isabelle Melki,
  • Lionel Ades,
  • Lin Pierre Zhao,
  • Alexandra Audemard,
  • Odile Beyne Rauzy,
  • Alexandre Belot,
  • Raphaël Borie,
  • Ygal Benhamou,
  • Gaetan Sauvetre,
  • Khalil El-Karoui,
  • François Rodrigues,
  • Louis Terriou,
  • Jerome Hadjadj,
  • Yann Nguyen,
  • Dalila Mouloudj,
  • Mael Heiblig,
  • Hassina Aloui,
  • Chloe McAvoy,
  • Samuel Ardois,
  • Corrado Campochiaro,
  • Alexandre Maria,
  • Cyrille Coustal,
  • Thibault Comont,
  • Francois Lifermann,
  • Guillaume Le Guenno,
  • Hervé Lobbes,
  • Tomas Urbina,
  • Vincent Grobost,
  • Julien Campagne,
  • Anais Dor-Etienne,
  • Alice Garnier,
  • Yvan Jamilloux,
  • Antoine Dossier,
  • Sylvain Audia,
  • Barbara Nicolas,
  • Alexis Mathian,
  • Baptiste de Maleprade,
  • Benjamin De Sainte-Marie,
  • Jean-David Bouaziz,
  • Cyril Dumain,
  • Carole Antoine,
  • Benjamin Carpentier,
  • Brice Castel,
  • Celine Lartigau-Roussin,
  • Etienne Crickx,
  • Geoffroy Volle,
  • Damien Fayard,
  • Anael Dumont,
  • Alexandre Nguyen,
  • Achille Aouba,
  • Jean-Philippe Martellosio,
  • Matthieu Levavasseur,
  • Sebastien Puigrenier,
  • Pascale Antoine,
  • Jean-Thomas Giraud,
  • Olivier Hermine,
  • Carole Lacout,
  • Nihal Martis,
  • Jean-Denis Karam,
  • Francois Chasset,
  • Laurent Arnaud,
  • Antoine Néel,
  • Lamia Boukir,
  • Paola Marianetti,
  • Christophe Deligny,
  • Thibaud Chazal,
  • Pascal Woaye-Hune,
  • Murielle Roux-Sauvat,
  • Aurore Meyer,
  • Pierre Sujobert,
  • Pierre Hirsch,
  • Noemie Abisror,
  • Pierre Fenaux,
  • Olivier Kosmider,
  • Vincent Jachiet,
  • Olivier Fain

摘要

Background

VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described syndrome linked to somatic mutations in the UBA1 gene, causing systemic autoinflammatory manifestations. To date, few data are available concerning neurological manifestations. The aim of this study was to describe their prevalence, clinical spectrum and outcome under treatment.

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.