2024 Clinician Corner - VEXAS syndrome unveiled: a multidimensional journey from clinical presentation to management

Abstract

An 83-year-old man with a history of monoclonal gammopathy of unknown significance, macrocytic anemia, and cytopenias pre­sented with hemorrhagic bullae on his left hand, alongside intermittent fevers and joint pain. Laboratory findings indicated ane­mia, elevated mean corpuscular volume, thrombocytopenia, leukopenia, and a high C-reactive protein level. A biopsy of the bullae showed neutrophilic dermatosis, and computed tomography scans of the thorax revealed lung opacities and mediastinal lymphadenopathy, suggesting neutrophilic alveolitis. Bone marrow examination found hypercellularity with myeloid and histiocytic hyperplasia, vacuolated precursors, and 3% blasts of an immature myelomonocytic lineage. Genetic testing uncovered a UBA1 mutation at an 81% allele frequency, confirming a diagnosis of VEXAS syndrome. Treatment commenced with prednisone, initi­ated at 60 mg daily and tapered to 10 mg, with tocilizumab considered for future symptom management. This regimen has suc­cessfully maintained remission, as observed in follow-up appointments. This case highlights the diagnostic complexity and effective management of VEXAS syndrome, underscoring the importance of genetic testing in guiding treatment decisions.


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Faculty credentials/disclosure 

The planners and faculty for this activity have no relevant financial relationships to disclose. The patient consented to the publication of this report.

Process

Click the "add to cart/begin" button, pay any relevant fee, take the quiz, complete the evaluation, and claim your CME credit.  You must achieve 100% on the quiz with unlimited attempts available.

  • By completing this process, you are attesting that you have read the journal article.

Expiration date:

Credit eligibility for this article is set to expire on September 1, 2025.

Learning Objectives

After completing the article, the learner should be able to:

  • Identify the clinical presentation and diagnostic criteria for VEXAS syndrome, including hematologic, rheumatologic, and inflammatory features; as well as significance of bone marrow biopsy findings, such as vacuoles in myeloid precursors, in the diagnosis and classification of VEXAS syndrome. 
  • Discuss the prognostic implications and potential complications of VEXAS syndrome, considering the heterogeneous nature of the disease and the age-related factors affecting treatment outcomes and the need for a tailored approach and a multidisciplinary management.
  • Assess the importance of interdisciplinary collaboration among hematologists, rheumatologists, and dermatologists in the comprehensive management of VEXAS syndrome patients.

Key Points: 

  • VEXAS syndrome, initially identified in 2020, is a rare disease characterized by overlapping hematologic and rheumatologic conditions, primarily affecting middle-aged to older men.
  • Our case presents a unique instance of VEXAS syndrome, featuring inflammatory symptoms alongside pancytopenia and a history of monoclonal gammopathy of unknown sig­nificance, highlighting the diverse clinical spectrum of this condition.
  • The diagnosis was confirmed through bone marrow biopsy revealing vacuoles in myeloid precursors and a UBA1 mutation, reaffirming the diagnostic criteria out­lined for VEXAS syndrome.
  • Management challenges persist, with current treatment options limited to glucocorticoids for symptomatic relief, underscoring the need for further research into targeted therapies such as ruxolitinib to improve patient outcomes.
Course summary
Available credit: 
  • 1.00 American Board of Internal Medicine (ABIM) MOC Part 2
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
  • 1.00 American Board of Surgery (ABS) Accredited CME
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the learner to earn credit toward the CME Medical Knowledge of the American Board of Surgery's Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.
  • 1.00 AMA PRA Category 1 Credit
    The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
  • 1.00 Attendance
Course opens: 
09/01/2024
Course expires: 
09/01/2025
Cost:
$25.00
Rating: 
0
  • Tomas Escobar Gil, MD - Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
  • Darrell D. Horton, MD - Department of Pathology, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
  • Oscar F. Borja Montes, MD - Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
  • Daniel Babu, MD - Department of Pathology, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
  • Abu Baker Sheikh, MBBS - Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA

Corresponding Author:

  • Tomas Escobar Gil, MD, Department of Internal Medicine, University of New Mexico School of Medicine, Albuquerque, NM, USA (e-mail: tescobargil@salud.unm.edu)

Accreditation

The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Designation

AMA PRA Category 1 Credit

The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

ABS CC

Successful completion of this CME activity enables the learner to earn credit toward the CME requirement of the American Board of Surgery’s Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.

ABIM MOC

 Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.0 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

 

Available Credit

  • 1.00 American Board of Internal Medicine (ABIM) MOC Part 2
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
  • 1.00 American Board of Surgery (ABS) Accredited CME
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the learner to earn credit toward the CME Medical Knowledge of the American Board of Surgery's Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.
  • 1.00 AMA PRA Category 1 Credit
    The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
  • 1.00 Attendance

Price

Cost:
$25.00
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