☆ 4.7 Review

How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies

RHEUMATOLOGY (2023)

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Article Hematology

Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome

Asami Kataoka et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2023)

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Article Rheumatology

VEXAS syndrome with severe multisystem involvement: Rapid recovery after splenectomy

Fatih Yildirim et al.

Summary: VEXAS syndrome, a newly defined disorder, poses challenges regarding treatment options. A case report of a patient with atypical symptoms and an intriguing treatment course is presented. The patient exhibited fatigue, recurring fever, lung infiltrates, proteinuria, anemia, leucopenia, transient skin rash, and elevated acute phase reactants. Corticosteroid tapering was not well tolerated, but rapid recovery was achieved following diagnostic splenectomy, which revealed significant findings upon pathological examination.

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES (2023)

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Article Medicine, General & Internal

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

David B. Beck et al.

Summary: The study aims to determine the prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome using a genomic ascertainment approach. The results show a high prevalence of pathogenic UBA1 variants in the studied population, with broad clinical manifestations.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2023)

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Letter Medical Laboratory Technology

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

Jihoon G. Yoon et al.

ANNALS OF LABORATORY MEDICINE (2023)

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Article Rheumatology

JAK inhibitors in difficult-to-treat adult-onset Still's disease and systemic-onset juvenile idiopathic arthritis

Louise Gillard et al.

Summary: JAKi agents can be considered as a therapeutic option for difficult-to-treat Still's disease, especially for patients with partial response to medium- or high-dose corticosteroids or biologics.

RHEUMATOLOGY (2023)

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Article Rheumatology

Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome

Hiroki Yamaguchi et al.

Summary: This case describes a 78-year-old man with multiple oedematous erythemas, fever, and arthralgia, who was diagnosed with relapsing polychondritis. The case also suggests that VEXAS syndrome might lead to arteriovenous fistula, emphasizing the importance of timely surgical intervention and diagnosis for the rescue of the patient.

MODERN RHEUMATOLOGY CASE REPORTS (2023)

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Letter Biophysics

Allogeneic stem cell transplantation as a curative therapeutic approach for VEXAS syndrome: a case report

Michael Loschi et al.

Summary: VEXAS syndrome is a disease associated with somatic mutation of UBA1, causing inflammatory symptoms in the skin, joints, and lungs. Most patients do not respond to standard anti-inflammatory or immunosuppressive treatments and eventually develop hematological diseases, with a poor prognosis. A case report demonstrates successful treatment of a VEXAS patient through allogeneic hematopoietic stem cell transplantation.

BONE MARROW TRANSPLANTATION (2022)

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Article Dermatology

Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients

S. Georgin-Lavialle et al.

Summary: VEXAS syndrome is a newly described autoinflammatory syndrome associated with somatic mutations of UBA1. It presents a wide range of clinical features, with different prognostic profiles identified, and the UBA1 p.Met41Leu mutation is associated with a better prognosis.

BRITISH JOURNAL OF DERMATOLOGY (2022)

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Article Hematology

Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry

Thibault Comont et al.

Summary: Azacitidine may be effective in MDS associated with inflammatory/autoimmune diseases. A study on 116 VEXAS patients in France found that azacitidine treatment achieved clinical response in 46% of patients, suggesting its potential effectiveness in selected VEXAS patients with MDS.

BRITISH JOURNAL OF HAEMATOLOGY (2022)

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Editorial Material Hematology

Towards treatments for VEXAS

Bhavisha A. Patel et al.

BRITISH JOURNAL OF HAEMATOLOGY (2022)

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Article Allergy

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS

Caspar van der Made et al.

Summary: A novel autoinflammatory syndrome called VEXAS has been discovered in male patients with somatic mutations in the UBA1 gene. This study retrospectively diagnosed VEXAS in previously unclassified autoinflammatory patients and described the clinical experiences with this complex disease. Through reanalysis of whole-exome sequencing data, 12 male patients with UBA1 mutations were identified. These patients experienced adult-onset autoinflammation with systemic symptoms, elevated inflammatory parameters, and multiorgan involvement, particularly affecting the skin and bone marrow. New features of VEXAS included interstitial nephritis, cardiac involvement, stroke, and intestinal perforation related to tocilizumab treatment. Despite various treatments, most patients were treatment-refractory, leading to a high mortality rate of 50%.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)

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Article Medicine, General & Internal

Cardiovascular and Cancer Risk with Tofacitinib in Rheumatoid Arthritis

Steven R. Ytterberg et al.

Summary: In this trial comparing the use of tofacitinib with a TNF inhibitor in a cardiovascular risk-enriched population, the risks of major adverse cardiovascular events (MACE) and cancers were found to be higher with tofacitinib, and it did not meet noninferiority criteria. Several adverse events were more common with tofacitinib.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

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Letter Rheumatology

VEXAS syndrome: favourable clinical and partial haematological responses to subcutaneous abatacept therapy with 30-month follow-up

Kylan Pathmanathan et al.

RHEUMATOLOGY (2022)

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Letter Rheumatology

Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis

Isabell Cordts et al.

RHEUMATOLOGY (2022)

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Letter Rheumatology

VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis

Anna Pamies et al.

RHEUMATOLOGY (2022)

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Article Rheumatology

VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis

Francesco Muratore et al.

Summary: By using a phenotype-first approach, this study identified patients with VEXAS syndrome among Italian patients with vasculitis. The study also found a novel association between VEXAS syndrome and ANCA-associated vasculitis.

ARTHRITIS & RHEUMATOLOGY (2022)

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Article Immunology

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease

Fabian Loetscher et al.

Summary: Somatic genetic mutations involving innate and inflammasome signaling are important in the pathogenesis of myelodysplastic syndromes (MDS). This study describes a patient with a long-standing refractory autoinflammatory syndrome (AIS) that was ultimately diagnosed as TET-2-positive MDS. The patient showed unresponsive multisystemic autoinflammatory disease, hematological abnormalities, and characteristic vacuoles in myeloid- and erythroid progenitors. Genetic testing confirmed the diagnosis of VEXAS syndrome, a recently discovered disease characterized by somatic mutations of the UBA1 gene.

FRONTIERS IN IMMUNOLOGY (2022)

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Article Hematology

Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience

Ava Diarra et al.

Summary: VEXAS syndrome is caused by somatic mutations in the UBA1 gene. Patients with VEXAS syndrome often display late-onset autoinflammatory symptoms and hematologic abnormalities. Allogeneic hematopoietic stem cell transplantation (ASCT) has shown promising outcomes in some patients, but further clinical trials are needed to determine its efficacy and place in the treatment arsenal for VEXAS syndrome.

BLOOD ADVANCES (2022)

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Letter Hematology

Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study

Mael Heiblig et al.

BLOOD (2022)

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Article Hematology

A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis

Roy L. Kao et al.

Summary: VEXAS syndrome, caused by a mutation in the UBA1 gene, can lead to various complications such as autoimmunity and myelodysplasia. This report describes a patient diagnosed with EBV-associated HLH in the setting of VEXAS syndrome, highlighting the importance of early identification and potential therapeutic intervention.

BLOOD CELLS MOLECULES AND DISEASES (2022)

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Article Medicine, General & Internal

VEXAS syndrome: lessons learnt from an early Australian case series

Sadia Islam et al.

Summary: This article presents three cases of VEXAS syndrome in Sydney, Australia, highlighting the key clinical features and refractory nature of the condition. It emphasizes the importance of multidisciplinary collaboration for early diagnosis and the need for new therapeutic options.

INTERNAL MEDICINE JOURNAL (2022)

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Letter Rheumatology

Successful use of cyclosporin A and interleukin-1 blocker combination therapy in VEXAS syndrome: a single-center case series

Corrado Campochiaro et al.

ARTHRITIS & RHEUMATOLOGY (2022)

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Review Biophysics

Update on VEXAS and role of allogeneic bone marrow transplant: Considerations on behalf of the Chronic Malignancies Working Party of the EBMT

Carmelo Gurnari et al.

Summary: VEXAS is a new entity with diverse clinical manifestations, lacking validated treatment guidelines. Allo-HCT appears to be the only curative option, but comes with inherent risks. Further research is needed to generate robust data to inform therapeutic decisions.

BONE MARROW TRANSPLANTATION (2022)

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Editorial Material Clinical Neurology

Azacitidine, a therapeutic option in Lewis and Sumner syndrome associated with VEXAS syndrome

T. Escoda et al.

REVUE NEUROLOGIQUE (2022)

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Article Medicine, General & Internal

A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment

Nagie Tozaki et al.

Summary: VEXAS syndrome is an autoinflammatory disease associated with severe adult-onset inflammatory manifestations. It is caused by somatic mutations of the UBA1 gene and can present with various clinical symptoms. Treatment methods such as prednisone and tocilizumab have shown effectiveness in relieving symptoms.

FRONTIERS IN MEDICINE (2022)

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Article Immunology

Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome

Haruki Matsumoto et al.

Summary: This case report describes a patient with VEXAS syndrome presenting with auricular chondritis and multiple myeloma (MM). The patient developed progressive macrocytic anemia and inflammation of both ears after treatment for MM. Histological examination confirmed the diagnosis of auricular chondritis. Further evaluation revealed vacuoles in myeloid precursor cells in the bone marrow and a somatic UBA1 variant consistent with VEXAS syndrome. The possible relationship between auricular chondritis and MM in the context of VEXAS syndrome is discussed.

FRONTIERS IN IMMUNOLOGY (2022)

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Article Immunology

Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan

Yosuke Kunishita et al.

Summary: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic variants in the UBA1 gene. No standard therapy has been established yet. This study reports that the combination of tocilizumab and glucocorticoids can delay disease progression and reduce the use of glucocorticoids in VEXAS syndrome patients.

FRONTIERS IN IMMUNOLOGY (2022)

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Article Medicine, General & Internal

Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

Antonio Vitale et al.

Summary: This paper presents an international registry for VEXAS syndrome, designed to collect real-life data and provide real-world evidence for daily clinical practice, potentially enhancing international collaboration and data sharing.

FRONTIERS IN MEDICINE (2022)

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Review Medicine, General & Internal

Effectiveness and Safety of JAK Inhibitors in Autoinflammatory Diseases: A Systematic Review

Zhivana Boyadzhieva et al.

Summary: This systematic review examines the use of JAK inhibitors (JAKi) for autoinflammatory diseases (AID). The review finds that JAKi can be beneficial in certain AID, but the risk of adverse events, especially viral infections, should be considered. Further clinical trials are needed to accurately assess the risk-benefit ratio of JAKi for AID.

FRONTIERS IN MEDICINE (2022)

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Article Medicine, General & Internal

VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome

Karun Neupane et al.

Summary: VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a newly discovered inflammatory syndrome with somatic mutation in the UBA1 gene. Patients with VEXAS syndrome often present with inflammatory and hematological conditions, including myelodysplastic syndrome and multiple myeloma. This study reports a case of VEXAS syndrome with MDS/myeloproliferative neoplasm overlap syndrome and highlights retinal detachment as a clinical feature.

BMJ CASE REPORTS (2022)

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Review Rheumatology

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review

Camila Andrea Guerrero-Bermudez et al.

Summary: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder characterized by autoinflammatory symptoms and myeloid dysplasia. This paper reports the first case of VEXAS syndrome in Colombia and South America, presenting with supraglottic larynx involvement and costochondritis. The unique features and poor response to treatment can aid in the diagnosis of VEXAS syndrome, which can be confused with other diseases such as relapsing polychondritis and polyarteritis nodosa.

CLINICAL RHEUMATOLOGY (2022)

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Letter Oncology

A Phase II prospective trial of azacitidine in steroid-dependent or refractory systemic autoimmune/inflammatory disorders and VEXAS syndrome associated with MDS and CMML

Arsene Mekinian et al.

LEUKEMIA (2022)

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Article Oncology

Myelodysplastic syndromes: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up

P. Fenaux et al.

ANNALS OF ONCOLOGY (2021)

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Letter Hematology

Therapeutic options in VEXAS syndrome: insights from a retrospective series

Estelle Bourbon et al.

BLOOD (2021)

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Article Hematology

Toward a pathophysiology inspired treatment of VEXAS syndrome

Mael Heiblig et al.

Summary: Therapeutic interventions for VEXAS syndrome are still in need of further exploration, with options including transplantation, drug therapies, and targeting the inflammatory cascade. Supportive care is essential in managing complications during treatment, and designing clinical trials for VEXAS patients presents challenges.

SEMINARS IN HEMATOLOGY (2021)

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Letter Rheumatology

VEXAS syndrome in a patient with previous spondyloarthritis with a favourable response to intravenous immunoglobulin and anti-IL17 therapy

Marion Magnol et al.

RHEUMATOLOGY (2021)

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Article Medicine, General & Internal

USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still's Disease in Elderly Patients

Marion Delplanque et al.

Summary: Patients with solid cancers and hematopoietic malignancy can exhibit systemic symptoms similar to adult-onset Still's disease, while the newly described VEXAS syndrome shows overlap with AOSD and MDS in clinical and biological features. The study found that patients with VEXAS may present signs of undifferentiated systemic autoinflammatory disorder (USAID) concordant with AOSD and MDS/CMML.

JOURNAL OF CLINICAL MEDICINE (2021)

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Letter Rheumatology

VEXAS syndrome in a woman

Thomas Barba et al.

RHEUMATOLOGY (2021)

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Article Immunology

Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome

Frederik Staels et al.

Summary: VEXAS syndrome, a newly identified disorder, is often associated with adult-onset inflammatory syndromes and myelodysplastic syndrome, caused by somatic mutations in the UBA1 gene leading to decreased cellular ubiquitylation activity and hyperinflammation. Patients may present with mild rash and polyarthritis, while in some cases, complications such as macrophage activation syndrome may develop and require anti-IL6 therapy for symptom resolution.

FRONTIERS IN IMMUNOLOGY (2021)

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Letter Rheumatology

Tocilizumab in VEXAS relapsing polychondritis: a single-center pilot study in Japan

Yohei Kirino et al.

ANNALS OF THE RHEUMATIC DISEASES (2021)

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Letter Hematology

Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold

Valentin Lacombe et al.

BRITISH JOURNAL OF HAEMATOLOGY (2021)

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Letter Immunology

A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis

Alice Grey et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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Article Cardiac & Cardiovascular Systems

The PRISMA 2020 statement: an updated guideline for reporting systematic reviews

Juan Jose Yepes-Nunez et al.

Summary: The PRISMA statement was designed to help systematic reviewers transparently report the purpose, methods, and findings of their reviews. The PRISMA 2020 statement replaces the 2009 statement, includes new reporting guidance, and modifies the structure and presentation of items for better implementation.

REVISTA ESPANOLA DE CARDIOLOGIA (2021)

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Letter Hematology

Azacytidine Treatment for VEXAS Syndrome

Marc H. G. P. Raaijmakers et al.

HEMASPHERE (2021)

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Letter Rheumatology

Tofacitinib in refractory adult-onset Still's disease: 14 cases from a single centre in China

Qiongyi Hu et al.

ANNALS OF THE RHEUMATIC DISEASES (2020)

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Review Medicine, General & Internal

Synthesis without meta-analysis (SWiM) in systematic reviews: reporting guideline

Mhairi Campbell et al.

BMJ-BRITISH MEDICAL JOURNAL (2020)

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Article Medicine, General & Internal

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

David B. Beck et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

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Article Rheumatology

Risk for lower intestinal perforations in patients with rheumatoid arthritis treated with tocilizumab in comparison to treatment with other biologic or conventional synthetic DMARDs

A. Strangfeld et al.

ANNALS OF THE RHEUMATIC DISEASES (2017)

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Review Pharmacology & Pharmacy

Azacitidine A Review of its Use in the Management of Myelodysplastic Syndromes/Acute Myeloid Leukaemia

Gillian M. Keating

DRUGS (2012)

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