VEXAS Syndrome: Rare Colitis, Muscle, and Pancreatic Involvement Reported | Quick Digest

VEXAS Syndrome: Rare Colitis, Muscle, and Pancreatic Involvement Reported | Quick Digest
A new case report in Cureus details the expansion of VEXAS syndrome's clinical manifestations to include histologically confirmed neutrophilic colitis alongside rare muscular and pancreatic involvement. This highlights the complex and diverse presentation of VEXAS, a serious autoinflammatory condition.

VEXAS syndrome's clinical spectrum is continuously expanding.

First case reports a unique combination of neutrophilic colitis, muscular, and pancreatic involvement.

Neutrophilic colitis is a severe inflammatory bowel condition.

Muscular and pancreatic involvements are uncommon in VEXAS syndrome.

Cureus is a legitimate, open-access journal, though known for case reports.

Findings underscore challenges in diagnosing diverse VEXAS presentations.

VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently identified and often fatal autoinflammatory disorder caused by somatic mutations in the UBA1 gene, primarily affecting males over 50. It leads to systemic inflammation impacting multiple organs, including blood, bone marrow, skin, cartilage, joints, lungs, and eyes. Common symptoms include recurrent fever, skin rashes, joint pain, and macrocytic anemia. The clinical understanding of VEXAS syndrome is continually evolving as new manifestations are identified. The Cureus article reports a unique case presenting with histologically confirmed neutrophilic colitis, a severe inflammatory condition of the bowel often associated with neutropenia. While neutrophilic dermatoses are recognized skin manifestations of VEXAS, specific neutrophilic colitis with histological confirmation is a less commonly highlighted gastrointestinal involvement. The report also details rare muscular and pancreatic involvement. Muscular involvement, specifically myositis, has been documented in only a few prior VEXAS cases. Pancreatic involvement remains notably rare, not frequently appearing in comprehensive reviews of VEXAS clinical features, suggesting this constellation of symptoms represents a significant expansion of the known clinical spectrum. The headline accurately reflects the nature of a case report that expands the known manifestations of a complex disease. The term "first report" is appropriate for this specific, rare combination of symptoms in a single patient, contributing to the ongoing characterization of VEXAS syndrome. Cureus, the publishing journal, is a legitimate open-access platform indexed in PubMed Central, often used for publishing case reports, although it has faced some criticism regarding its peer review speed and quality. This article, dated October 10, 2023, enriches the medical community's understanding of VEXAS syndrome's diverse and challenging presentations.
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