VEXAS syndrome: A review on clinical manifestations DOI Open Access
Bedanta Roy, Juliet Othieno, N. Jasmine Fauzee

et al.

Journal of Biomedical Sciences, Journal Year: 2023, Volume and Issue: 10(2), P. 40 - 48

Published: Dec. 31, 2023

Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified progressive, adult-onset, inflammatory disorder. Somatic mutations in the Ubiquitin-like modifier activating enzyme 1 (UBA1) gene at methionine-41 (p. Met41) were found patients. Clinical presentations are not limited to hematological and immunological systems; all organ systems affected by syndrome. The aim of this review summarise scientific evidence accrued from research studies on syndrome, highlighting clinical features involvements different systems. Conclusion: Although primary manifestations affect haematological systems, they gradually other systems. Distinct necessitate ruling out possibilities that will be helpful for early diagnosis. More should carried global community collaborative manner better understanding diagnosis

Language: Английский

A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report DOI Creative Commons
Melanie Berger, Falk Schumacher, Maximilian Wollsching-Strobel

et al.

Journal of Medical Case Reports, Journal Year: 2024, Volume and Issue: 18(1)

Published: Aug. 24, 2024

VEXAS syndrome, characterized by a UBA1 gene mutation, is rare and severe systemic inflammatory disease predominantly affecting men. Since its initial description in 2020, it has been noted for broad clinical phenotype frequent misdiagnosis. A 76-year-old Caucasian male patient diagnosed with syndrome presented this case report. He typical symptoms including pulmonary manifestations (infiltrates effusions), inflammation, haematological abnormalities. The diagnosis was challenging due to the disease's heterogeneous presentation, often resembling autoimmune or diseases. This patient's featured ground-glass opacities pleural effusions, underlining significant involvement seen 50–67% of patients. His condition further complicated recurrent fever inflammation multiple organs. demands an aggressive treatment approach high mortality rate refractory nature. underscores importance differential diagnoses, particularly patients symptoms, calls multidisciplinary management extensive research understand full range phenotypes.

Language: Английский

Citations

2
Entities inside one another: VEXAS, a matryoshka-type disease DOI
Silvia Suárez‐Díaz,

Carmen Yllera-Gutiérrez,

Claudia Morán-Castaño

et al.

Reumatología Clínica (English Edition), Journal Year: 2024, Volume and Issue: 20(1), P. 57 - 58

Published: Jan. 1, 2024

Language: Английский

Citations

1
VEXAS syndrome presenting as diffuse alveolar haemorrhage DOI

Fayaz Ahmad Sofi,

Shaariq Mehraj Naqati,

Mushtaq Ahmad

et al.

BMJ Case Reports, Journal Year: 2024, Volume and Issue: 17(3), P. e259474 - e259474

Published: March 1, 2024

We report the case of a man in his late 30s who presented with history breathlessness and cough haemoptysis. Complete blood counts revealed pancytopenia. High-resolution CT showed diffuse bilateral ground glass opacities. Sequential bronchoalveolar lavage confirmed alveolar haemorrhage. Bone marrow aspiration vacuoles erythroid myeloid precursor cells. The genome was sequenced, UBA1 gene c.121 A>G mutation (p.Met41Val), confirming vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. patient managed high-dose prednisolone pulse therapy. He improved complete resolution haemorrhage an improvement lung function cytopenias.

Language: Английский

Citations

1
The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern DOI Creative Commons
Claudia Iannone, Maria Rosa Pellico, Corrado Campochiaro

et al.

Reumatismo, Journal Year: 2024, Volume and Issue: 76(2)

Published: June 24, 2024

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes. This case describes 71-year-old male patient VEXAS who presented refractory lung inflammation pattern similar to computed tomography hypersensitivity pneumonitis, novel finding syndrome. The clinical highlights protean involvement and emphasizes importance considering interstitial differential diagnosis.

Language: Английский

Citations

1
Pulmonary manifestations of VEXAS syndrome with acute interstitial pneumonia and diffuse alveolar hemorrhage: a case report and literature review DOI

Marijan Puseljic,

Johannes Schmid, Jasminka Igrec

et al.

ARP Rheumatology, Journal Year: 2024, Volume and Issue: 3(2), P. 151 - 156

Published: June 30, 2024

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an emerging adult-onset systemic autoinflammatory disorder affecting multiple organ systems. While lung involvement common in this syndrome, literature regarding specific patterns sparse. In report, we present a case description of patient with VEXAS who presented at the emergency department on two separate occasions acute interstitial pneumonia (AIP) and diffuse alveolar hemorrhage (DAH). A review comparison our observed findings to general AIP, DAH provided. This report underscores rarity pulmonary manifestations associated contributing valuable insight limited available topic.

Language: Английский

Citations

0
VEXAS Syndrome: A Review for the Inpatient Dermatologist DOI
Michelle Kwan, Christopher S. Yang,

Cuong V. Nguyen

et al.

Current Dermatology Reports, Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 5, 2024

Language: Английский

Citations

0
A vexing case of a 73‐year‐old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease DOI Creative Commons
Sushil Agwan,

Lai‐Ying Zhang,

Thomas Baker

et al.

Respirology Case Reports, Journal Year: 2024, Volume and Issue: 12(9)

Published: Sept. 1, 2024

Abstract VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from somatic mutation in the X‐linked UBA1 gene cells of myeloid lineage. It can present myriad ways with potential to affect various organ systems, including lungs. usually steroid responsive, but no strong data exists for use steroid‐sparing agent. There limited emerging evidence haematopoietic stem cell transplantation select number cases. Regardless, prognosis this condition poor treatment algorithm remains priority. Herein, we case that came attention discovery relatively asymptomatic interstitial lung led recurrent febrile episodes evolving multi‐organ involvement.

Language: Английский

Citations

0
The Histopathology of Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome: Report of 12 Skin Biopsies From 6 Patients DOI
Bethany Brumbaugh, Alvaro C. Laga, Dimitra Pouli

et al.

American Journal of Dermatopathology, Journal Year: 2024, Volume and Issue: 46(10), P. 637 - 647

Published: April 23, 2024

We present the histopathology of 12 skin biopsies from 6 patients with vacuoles, enzyme E1, X-linked, autoinflammatory, somatic syndrome and review literature. The age these men ranges 62 to 83 years (median 70 years). UBA1 mutation was documented in all patients. Multiple organ systems were involved constitutional symptoms noted 4 (67%), cutaneous involvement (100%), hematologic abnormalities pulmonary musculoskeletal 3 (50%), vascular thrombosis 2 (33%), ocular gastrointestinal 5 (83%). Of presented patients, neutrophilic dermatosis seen biopsies, histiocytoid 1 biopsy, vasculitis granulomatous dermatitis septal panniculitis consistent erythema nodosum nonspecific patterns biopsies. In summary, dermatosis, small-vessel vasculitis, are frequent histopathologic decreasing frequency syndrome. However, findings can be diverse, some instances, varied among different obtained same patient.

Language: Английский

Citations

0
Entities inside one another: VEXAS, a matryoshka-type disease DOI
Silvia Suárez‐Díaz,

Carmen Yllera-Gutiérrez,

Claudia Morán-Castaño

et al.

Reumatología Clínica, Journal Year: 2023, Volume and Issue: 20(1), P. 57 - 58

Published: Sept. 20, 2023

Language: Английский

Citations

1
Pulmonary manifestation of VEXAS syndrome DOI
Thomas Knab, Thomas Gaisl, Carolin Steinack

et al.

BMJ Case Reports, Journal Year: 2024, Volume and Issue: 17(7), P. e258140 - e258140

Published: July 1, 2024

This case report presents the diagnostic journey of a man in his mid-70s who experienced shortness breath, cough, recurrent episodes fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen lung CT scan. patient initially responded favourably to immunosuppression but recurrence symptoms when corticosteroid dose tapered. Despite ongoing systemic inflammation symptoms, it took nearly year establish VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory somatic) syndrome. highlights challenges diagnosing managing syndrome due its recent discovery limited awareness medical community, as well need consider this rare differential therapy-refractory pulmonary infiltrates.

Language: Английский

Citations

0