Track: Clinical Studies

Topic: Inflammatory Diseases

Abstract:

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an inflammatory syndrome first described in 2020. It commonly presents with neutrophilic dermatoses clinically and pathologically indistinguishable from Sweet syndrome. Differentiating between the two is important, as VEXAS patients often respond poorly to therapies for Sweet syndrome. The literature describes cytoplasmic vacuolization in myeloid precursors in bone marrow as a specific finding for VEXAS syndrome. However, how this vacuolization translates to skin biopsies is not well characterized. We evaluated neutrophil vacuolization in skin biopsies compared to myeloid precursor vacuolization in bone marrow aspirates of 15 Sweet syndrome patients suspected to have VEXAS syndrome. Inclusion criteria for this single-center retrospective study were male sex, histologic evidence of Sweet syndrome on skin biopsy diagnosed between 2008 and 2020, and available bone marrow aspirate. 10 patients displayed increased neutrophil vacuolization in their skin biopsies. Of these, 4 patients had bone marrow aspirates with features suspicious for VEXAS, while 6 patients had bone marrow aspirates lacking histologic evidence of VEXAS. 5 patients did not exhibit increased neutrophil vacuolization in skin biopsies; these patients did not demonstrate features specific for VEXAS syndrome in their bone marrow aspirates. In our small patient sample, increased neutrophil vacuolization in skin biopsies appeared to be 100% sensitive and 45.5% specific for corresponding myeloid precursor vacuolization in bone marrow aspirates. These findings suggest that absent neutrophil vacuolization on skin biopsy may reduce the likelihood of VEXAS syndrome in suspected patients, possibly sparing them the need for bone marrow biopsy.

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Bryan Ciccarelli, MD, PhD