Pulmonary manifestations in VEXAS syndrome
Copyright © 2023 Elsevier Ltd. All rights reserved..
BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized multisystem disorder caused by somatic mutations in the UBA1 gene.
METHODS: A retrospective cohort study was conducted on all patients with VEXAS syndrome evaluated at our institution from June 2020 through May 2022. Medical records and chest imaging studies were reviewed.
RESULTS: We identified 45 subjects with median age of 68 years (range, 57-89), all men. Prior to VEXAS diagnosis, most patients had been diagnosed with various hematologic, rheumatologic, and dermatologic disorders. Most patients (84%) demonstrated canonical UBA1 methionine-41 (p.Met41) somatic mutations in hematopoietic cells. Fever (82%), skin lesions (91%), and respiratory symptoms (93%) were common presenting features. Chest CT manifested abnormalities in 91% of patients including parenchymal opacities in 25 (74%), most commonly ground-glass opacities (47%), along with mediastinal lymphadenopathy (29%), airway abnormalities (29%), and pleural effusion (24%). Pulmonary function test results available in 18 (40%) patients demonstrated mild restrictive impairment or normal results. Bronchoalveolar lavage and lung biopsy performed in a minority of patients demonstrated neutrophilic alveolitis and parenchymal inflammation, respectively. All patients received glucocorticoid therapy with at least partial response, but relapses were common and other immunosuppressive agents were employed in most patients. Pulmonary involvement appeared to improve in patients who received tocilizumab and JAK inhibitors.
CONCLUSION: The pulmonary manifestations in VEXAS are relatively nonspecific and nonsevere, occur in the context of systemic inflammation and are responsive to escalation in glucocorticoid dosing.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:213 |
|---|---|
| Enthalten in: |
Respiratory medicine - 213(2023) vom: 14. Juli, Seite 107245 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Casal Moura, Marta [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Autoinflammatory |
|---|
| Anmerkungen: |
Date Completed 15.05.2023 Date Revised 11.06.2023 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.rmed.2023.107245 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM355665875 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM355665875 | ||
| 003 | DE-627 | ||
| 005 | 20231226064827.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.rmed.2023.107245 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1185.xml |
| 035 | |a (DE-627)NLM355665875 | ||
| 035 | |a (NLM)37062498 | ||
| 035 | |a (PII)S0954-6111(23)00133-6 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Casal Moura, Marta |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Pulmonary manifestations in VEXAS syndrome |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 15.05.2023 | ||
| 500 | |a Date Revised 11.06.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 Elsevier Ltd. All rights reserved. | ||
| 520 | |a BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized multisystem disorder caused by somatic mutations in the UBA1 gene | ||
| 520 | |a METHODS: A retrospective cohort study was conducted on all patients with VEXAS syndrome evaluated at our institution from June 2020 through May 2022. Medical records and chest imaging studies were reviewed | ||
| 520 | |a RESULTS: We identified 45 subjects with median age of 68 years (range, 57-89), all men. Prior to VEXAS diagnosis, most patients had been diagnosed with various hematologic, rheumatologic, and dermatologic disorders. Most patients (84%) demonstrated canonical UBA1 methionine-41 (p.Met41) somatic mutations in hematopoietic cells. Fever (82%), skin lesions (91%), and respiratory symptoms (93%) were common presenting features. Chest CT manifested abnormalities in 91% of patients including parenchymal opacities in 25 (74%), most commonly ground-glass opacities (47%), along with mediastinal lymphadenopathy (29%), airway abnormalities (29%), and pleural effusion (24%). Pulmonary function test results available in 18 (40%) patients demonstrated mild restrictive impairment or normal results. Bronchoalveolar lavage and lung biopsy performed in a minority of patients demonstrated neutrophilic alveolitis and parenchymal inflammation, respectively. All patients received glucocorticoid therapy with at least partial response, but relapses were common and other immunosuppressive agents were employed in most patients. Pulmonary involvement appeared to improve in patients who received tocilizumab and JAK inhibitors | ||
| 520 | |a CONCLUSION: The pulmonary manifestations in VEXAS are relatively nonspecific and nonsevere, occur in the context of systemic inflammation and are responsive to escalation in glucocorticoid dosing | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Autoinflammatory | |
| 650 | 4 | |a Ground glass opacities | |
| 650 | 4 | |a Somatic mutations | |
| 650 | 4 | |a UBA1 gene | |
| 650 | 4 | |a VEXAS | |
| 650 | 7 | |a Glucocorticoids |2 NLM | |
| 700 | 1 | |a Baqir, Misbah |e verfasserin |4 aut | |
| 700 | 1 | |a Tandon, Yasmeen K |e verfasserin |4 aut | |
| 700 | 1 | |a Samec, Matthew J |e verfasserin |4 aut | |
| 700 | 1 | |a Hines, Alexander S |e verfasserin |4 aut | |
| 700 | 1 | |a Reichard, Kaaren K |e verfasserin |4 aut | |
| 700 | 1 | |a Mangaonkar, Abhishek A |e verfasserin |4 aut | |
| 700 | 1 | |a Go, Ronald S |e verfasserin |4 aut | |
| 700 | 1 | |a Warrington, Kenneth J |e verfasserin |4 aut | |
| 700 | 1 | |a Patnaik, Mrinal M |e verfasserin |4 aut | |
| 700 | 1 | |a Koster, Mathew J |e verfasserin |4 aut | |
| 700 | 1 | |a Ryu, Jay H |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Respiratory medicine |d 1993 |g 213(2023) vom: 14. Juli, Seite 107245 |w (DE-627)NLM012605247 |x 1532-3064 |7 nnns |
| 773 | 1 | 8 | |g volume:213 |g year:2023 |g day:14 |g month:07 |g pages:107245 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.rmed.2023.107245 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 213 |j 2023 |b 14 |c 07 |h 107245 | ||