VEXAS syndrome

From Aaushi
Jump to navigation Jump to search

Introduction

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic

Etiology

Epidemiology

  • not rare, ~ 1 in 13,500 people in U.S. may have VEXAS syndrome[2]
  • predominantly men aged 55-65 years
  • women with monosomy X hve been reported
  • UBA1 variants found in 1 of 4,269 men > 50 years & in 1 of 26,238 women > 50 years[3]

Pathology

* not myleoblasts (image[5])

Genetics

Clinical manifestations

Laboratory

Complications

Differential diagnosis

Management

More general terms

References

  1. 1.0 1.1 Guidnot C Have you heard of VEXAS syndrome? MDEdge. Internal Medicine. Dec 12, 2022 https://www.mdedge.com/internalmedicine/article/260055/mens-health/have-you-heard-vexas-syndrome
    Medscape. Dec 12, 2022 https://www.medscape.com/viewarticle/985324
  2. 2.0 2.1 Dotinga R VEXAS Syndrome: More Common, Variable, and Severe Than Expected. Medscape. January 25, 2023 https://www.medscape.com/viewarticle/987466
    Beck DB, Bodian DL, Shah V et al Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023;329(4):318-324 PMID: https://www.ncbi.nlm.nih.gov/pubmed/36692560 https://jamanetwork.com/journals/jama/article-abstract/2800661
  3. 3.0 3.1 AMA Morning Rounds. Jan 25, 2023 American Medical Association
  4. Fiore K Inflammatory VEXAS Syndrome May Not Be So Uncommon. Is new disease being missed by physicians? MedPage Today January 24, 2023 https://www.medpagetoday.com/rheumatology/generalrheumatology/102772
    Beck DB et al Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease N Engl J Med 2020; 383:2628-2638 PMID: https://www.ncbi.nlm.nih.gov/pubmed/33108101 PMCID: PMC7847551 Free PMC article https://www.nejm.org/doi/full/10.1056/NEJMoa2026834
  5. 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 5.11 Raess PW, Sendowski M, Fett N Treatment-Resistant Edematous Annular Plaques and Mild Leukopenia in a Man in His 60s. JAMA Dermatol. 2023;159(8):878-879 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37378991 https://jamanetwork.com/journals/jamadermatology/fullarticle/2806311 https://edhub.ama-assn.org/jn-learning/module/2806311
  6. Gever J Study Confirms: No Great Options for Treating VEXAS. Efficacy versus safety is the inevitable tradeoff, and efficacy isn't that good to begin with. MedPage Today May 24, 2024 https://www.medpagetoday.com/rheumatology/generalrheumatology/110314
    de Valence B, Delaune M, Nguyen Y et al Serious infections in patients with VEXAS syndrome: data from the French VEXAS registry. Ann Rheum Dis. 2024 Feb 15;83(3):372-381. PMID: https://www.ncbi.nlm.nih.gov/pubmed/38071510