The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern
C. Iannone,
M.R. Pellico,
C. Campochiaro,
L. Tescaro,
M. Zompatori,
A. Caminati,
S. Harari,
R. Caporali
Affiliations
C. Iannone
Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan
M.R. Pellico
Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan
C. Campochiaro
Vita-Salute San Raffaele University, Milan; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan
L. Tescaro
Department of Clinical Sciences and Community Health, University of Milan; Operative Unit of Pneumology and Semi-Intensive Respiratory Therapy, Respiratory Pathophysiology and Pulmonary Hemodynamics Service, Ospedale San Giuseppe, MultiMedica IRCCS, Milan
M. Zompatori
Operative Unit of Radiology, Department of Diagnostic Imaging, MultiMedica IRCCS, Milan; DIMES University Department, University of Bologna
A. Caminati
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan
S. Harari
Department of Clinical Sciences and Community Health, University of Milan; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Milan
R. Caporali
Division of Clinical Rheumatology, ASST Gaetano Pini-CTO Institute, Milan; Department of Clinical Sciences and Community Health, University of Milan
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes a 71-year-old male patient with VEXAS syndrome who presented with refractory lung inflammation with a pattern similar to computed tomography hypersensitivity pneumonitis, a novel finding in VEXAS syndrome. The presented clinical case highlights the protean involvement of the lung in VEXAS syndrome and emphasizes the importance of considering interstitial lung disease in the differential diagnosis.
