Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an emerging adult-onset systemic autoinflammatory disorder affecting multiple organ systems. While lung involvement is common in this syndrome, literature regarding specific patterns is sparse. In this report, we present a case description of a patient with VEXAS syndrome who presented at the emergency department on two separate occasions with acute interstitial pneumonia (AIP) and diffuse alveolar hemorrhage (DAH). A literature review with a comparison of our observed findings to the general findings of VEXAS syndrome, AIP, and DAH is provided. This report underscores the rarity of specific pulmonary manifestations associated with VEXAS syndrome, contributing valuable insight to the limited literature available on this topic.
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Rheumatology (Oxford)
January 2025
Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Ann Hematol
January 2025
Hematology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, 09121, Italy.
VEXAS syndrome is a complex hemato-inflammatory disorder, driven by somatic mutations in the UBA1 gene within hematopoietic precursor cells. It is characterized by systemic inflammation, rheumatological manifestations, and frequent association with myelodysplastic syndrome (MDS). We present a series of four VEXAS cases, all of which include concomitant MDS, each displaying distinct genetic signatures and clinical features at diagnosis, with a focus on their diagnostic and therapeutic implications.
View Article and Find Full Text PDFBr J Haematol
January 2025
Department of Internal Medicine and Medical Specialties (DiMI), Università di Genova, Genoa, Italy.
Kidney Int Rep
January 2025
Néphrologie, Hôpital Tenon, Sorbonne Université, Paris, France.
Can J Ophthalmol
January 2025
University of Bonn, Venusberg-Campus 1, Bonn, Germany; Augenzentrum Grischun, Chur, Switzerland. Electronic address:
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