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Rheumatology International Jul 2024VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly discovered autoinflammatory condition characterised by somatic mutation of the UBA1... (Review)
Review Meta-Analysis
BACKGROUND
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly discovered autoinflammatory condition characterised by somatic mutation of the UBA1 gene. The syndrome leads to multi-system inflammation affecting predominantly the skin, lungs and bone marrow.
METHODS
We undertook a systematic review of the multisystem features and genotypes observed in VEXAS syndrome. Articles discussing VEXAS syndrome were included. Medline, Embase and Cochrane databases were searched. Information was extracted on: demographics, type and prevalence of clinical manifestations, genetic mutations and treatment. Meta-analysis using a random effects model was used to determine pooled estimates of serum markers.
RESULTS
From 303 articles, 90 were included, comprising 394 patients with VEXAS. 99.2% were male, with a mean age of 67.1 years (SD 8.5) at disease onset. The most frequent diagnoses made prior to VEXAS were: relapsing polychondritis (n = 59); Sweet's syndrome (n = 24); polyarteritis nodosa (n = 11); and myelodysplastic syndrome (n = 10). Fever was reported in 270 cases (68.5%) and weight loss in 79 (20.1%). Most patients had haematological (n = 342; 86.8%), dermatological (n = 321; 81.5%), pulmonary (n = 297; 75.4%%) and musculoskeletal (n = 172; 43.7%) involvement, although other organ manifestations of varying prevalence were also recorded. The most commonly reported mutations were "c.122T > C pMET41Thr" (n = 124), "c.121A > G pMET41Val" (n = 62) and "c.121A > C pMet41Leu" (n = 52). Most patients received glucocorticoids (n = 240; 60.9%) followed by methotrexate (n = 82; 20.8%) and IL-6 inhibitors (n = 61, 15.4%). One patient underwent splenectomy; 24 received bone marrow transplants.
CONCLUSION
VEXAS syndrome is a rare disorder affecting predominantly middle-aged men. This is the first systematic review to capture clinical manifestations, genetics and treatment of reported cases. Further studies are needed to optimise treatment and subsequently reduce morbidity and mortality.
Topics: Humans; Male; Ubiquitin-Activating Enzymes; Female; Mutation; Syndrome; Aged; Middle Aged; Myelodysplastic Syndromes; Sweet Syndrome; Polyarteritis Nodosa; Hereditary Autoinflammatory Diseases
PubMed: 38129348
DOI: 10.1007/s00296-023-05513-0 -
Clinical Rheumatology Nov 2016To investigate the possible association between systemic vasculitis and risk of venous thromboembolism (VTE), two investigators independently searched published studies... (Meta-Analysis)
Meta-Analysis Review
To investigate the possible association between systemic vasculitis and risk of venous thromboembolism (VTE), two investigators independently searched published studies indexed in MEDLINE, EMBASE, and the Cochrane database from inception to April 2016 using the terms for each type of vasculitis in conjunction with the terms for venous thromboembolism. The inclusion criteria were as follows: (1) observational studies published as original studies to evaluate the association between vasculitis and VTE, (2) odds ratios, relative risk or hazard ratio or standardized incidence ratio with 95 % confidence intervals (CI) were provided, and (3) participants without vasculitis were used as comparators for cohort studies and cross-sectional studies while participants without VTE were used as comparators for case-control studies. RevMan 5.3 software was used for the data analysis. Point estimates and standard errors were extracted from individual studies and were combined by the generic inverse variance method of DerSimonian and Laird. Seven studies investigating the risk of VTE among patients with systemic vasculitis were identified. At least one study was available for three specific forms of vasculitis (polyarteritis nodosa [PAN], granulomatosis with polyangiitis [GPA], and giant cell arteritis [GCA]). An increased risk of VTE was seen in all three vasculitides (GPA, pooled RR 3.94, 95 % CI 1.11-14.01; PAN, pooled RR 3.00, 95 % CI 2.20-4.09; GCA, pooled RR 2.26, 95 % CI 1.38-3.71). This meta-analysis demonstrates that patients with systemic vasculitis may have a significantly increased risk of VTE.
Topics: Cross-Sectional Studies; Humans; Incidence; Risk; Vasculitis; Venous Thromboembolism
PubMed: 27572522
DOI: 10.1007/s10067-016-3394-7 -
Frontiers in Immunology 2019Certain types of vasculitis occur more frequently and present differently in patients with familial Mediterranean fever (FMF). We assessed the characteristics of... (Meta-Analysis)
Meta-Analysis
Certain types of vasculitis occur more frequently and present differently in patients with familial Mediterranean fever (FMF). We assessed the characteristics of patients with FMF and systemic vasculitis through a systematic review of the literature. Medline was searched by two independent investigators until December 2017. We screened 310 articles and selected 58 of them (IgA vasculitis = 12, polyarteritis nodosa (PAN) = 25, Behçet's disease (BD) = 7, other vasculitis = 14). Clinical case reports were available for 167 patients (IgA vasculitis = 46, PAN = 61, BD = 46, other vasculitis = 14), and unavailable for 45 patients (IgA vasculitis = 38, PAN = 7). IgA vasculitis was the most common vasculitis in FMF patients with a prevalence of 2.7-7%, followed by PAN with a prevalence of 0.9-1.4%. Characteristics of FMF did not differ between patients with and without vasculitis. Patients with FMF and IgA vasculitis displayed more intussusception (8.7%) and possibly less IgA deposits on histological analysis than patients with IgA vasculitis alone. Patients with FMF and PAN had a younger age at vasculitis onset (mean age = 17.9 years), as well as more perirenal hematomas (49%) and CNS involvement (31%) than patients with PAN alone. Glomerular involvement was noted in 33% of patients diagnosed with PAN, suggesting an alternative diagnosis. Sequencing of the gene confirmed the presence of two pathogenic variants in 73% of FMF patients with IgA vasculitis or PAN. The majority of patients with BD were from one case series, and presented more skin, gastrointestinal, and CNS involvement than patients with isolated BD. In conclusion, FMF, particularly when supported by two pathogenic mutations, could predispose to IgA vasculitis, or a PAN-like vasculitis with more perirenal bleeding and CNS involvement.
Topics: Age of Onset; Disease Management; Disease Susceptibility; Familial Mediterranean Fever; Humans; Phenotype; Prevalence; Sex Factors; Vasculitis
PubMed: 31031761
DOI: 10.3389/fimmu.2019.00763 -
Infection Mar 2024Vaccinations are essential in minimizing the effects of global health crises including COVID-19 pandemic. This study investigates the potential association between... (Review)
Review
PURPOSE
Vaccinations are essential in minimizing the effects of global health crises including COVID-19 pandemic. This study investigates the potential association between COVID-19 vaccination and the occurrence of medium vessel vasculitis.
METHODS
Several databases were utilized to conduct a comprehensive literature review. The studies were carefully evaluated to ensure their quality and eliminate any potential bias.
RESULTS
After reviewing 935 search results and removing duplicates, we selected 10 case reports. We discovered that medium vessel vasculitis may occur after COVID-19 vaccination, typically appearing around 16.2 days after vaccination. The patients in the study had a median age of 43.5 years and were predominantly males (80%). Additionally, half of the cases were reported after the second dose of vaccination.
CONCLUSIONS
Vaccination-associated vasculitis is a rare yet possible complication of COVID-19 vaccination and lacks a clear treatment protocol.
PubMed: 38483787
DOI: 10.1007/s15010-024-02217-w -
Annals of the Rheumatic Diseases Oct 2022
Tocilizumab for the treatment of polyarteritis nodosa: a systematic literature review. Correspondence on 'Tofacitinib for polyarteritis nodosa: a tailored therapy' by Rimar .
Topics: Antibodies, Monoclonal, Humanized; Humans; Piperidines; Polyarteritis Nodosa; Pyrimidines
PubMed: 32907804
DOI: 10.1136/annrheumdis-2020-218710 -
Arthritis & Rheumatology (Hoboken, N.J.) Aug 2021To provide evidence-based recommendations and expert guidance for the management of systemic polyarteritis nodosa (PAN).
OBJECTIVE
To provide evidence-based recommendations and expert guidance for the management of systemic polyarteritis nodosa (PAN).
METHODS
Twenty-one clinical questions regarding diagnostic testing, treatment, and management were developed in the population, intervention, comparator, and outcome (PICO) format for systemic, non-hepatitis B-related PAN. Systematic literature reviews were conducted for each PICO question. The Grading of Recommendations Assessment, Development and Evaluation methodology was used to assess the quality of evidence and formulate recommendations. Each recommendation required ≥70% consensus among the Voting Panel.
RESULTS
We present 16 recommendations and 1 ungraded position statement for PAN. Most recommendations were graded as conditional due to the paucity of evidence. These recommendations support early treatment of severe PAN with cyclophosphamide and glucocorticoids, limiting toxicity through minimizing long-term exposure to both treatments, and the use of imaging and tissue biopsy for disease diagnosis. These recommendations endorse minimizing risk to the patient by using established therapy at disease onset and identify new areas where adjunctive therapy may be warranted.
CONCLUSION
These recommendations provide guidance regarding diagnostic strategies, use of pharmacologic agents, and imaging for patients with PAN.
Topics: Antirheumatic Agents; Cyclophosphamide; Disease Management; Evidence-Based Medicine; Glucocorticoids; Humans; Polyarteritis Nodosa; Rheumatology; United States
PubMed: 34235883
DOI: 10.1002/art.41776 -
Annals of Hematology Mar 2016
Review
Topics: Hematopoietic Stem Cell Transplantation; Humans; Male; Middle Aged; Myelodysplastic Syndromes; Polyarteritis Nodosa
PubMed: 26787416
DOI: 10.1007/s00277-015-2587-5 -
Seminars in Arthritis and Rheumatism Dec 2021Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease usually presenting before the age of 10 years. Non-specific clinical features or...
BACKGROUND
Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease usually presenting before the age of 10 years. Non-specific clinical features or late-onset presentation may delay its diagnosis until adulthood.
OBJECTIVE
To determine whether DADA2 diagnosed in adulthood is associated with specific characteristics compared to DADA2 diagnosed in childhood.
METHODS
We pooled a cohort of 12 adult DADA2 patients followed in France with cases identified through a systematic literature review. For each patient, we determined the type of clinical presentation and assessed six key organ involvements.
RESULTS
A total of 306 cases were included. Among the 283 patients with available data regarding age at diagnosis, 140 were diagnosed during adulthood and 143 during childhood. The vascular presentation of DADA2 was more frequent in the adult diagnosis group (77.9% vs. 62.9%, p < 0.01), whereas the hematological presentation (bone marrow failure) prevailed in the pediatric diagnosis group (10.0% vs. 20.3% p = 0.02). In patients with vasculopathy, severe skin manifestations developed in 35% and 10% of the adult and pediatric diagnosis groups, respectively. Conversely, fewer strokes occurred in the adult group presenting with systemic vasculopathy (54% vs. 81%). Symptomatic humoral immune deficiency (HID) was rarely a clinical presentation in itself (5% and 2.8%) but accompanied other phenotypes of DADA2, especially the hematological phenotype in the adult group (33% vs. 4%).
CONCLUSION
DADA2 diagnosed in adulthood presents more often with a vascular phenotype and less often with bone marrow failure than DADA2 diagnosed in childhood. Adults diagnosed with DADA2 vasculopathy display more severe skin involvement but fewer strokes.
Topics: Adenosine Deaminase; Adult; Child; Humans; Immunologic Deficiency Syndromes; Intercellular Signaling Peptides and Proteins; Mutation; Phenotype
PubMed: 34571400
DOI: 10.1016/j.semarthrit.2021.09.001