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VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis
OBJECTIVE: To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome) from a single‐center cohort of Italian patients with vasculitis, using a clinically oriented phenotype‐first approach. METHODS: We retrospectively reviewed the clinical records of...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Periodicals, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957507/ https://www.ncbi.nlm.nih.gov/pubmed/34611997 http://dx.doi.org/10.1002/art.41992 |
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author | Muratore, Francesco Marvisi, Chiara Castrignanò, Paola Nicoli, Davide Farnetti, Enrico Bonanno, Orsola Longo, Rosina Zaldini, Piera Galli, Elena Balanda, Nicholas Beck, David B. Grayson, Peter C. Pipitone, Nicolò Boiardi, Luigi Salvarani, Carlo |
author_facet | Muratore, Francesco Marvisi, Chiara Castrignanò, Paola Nicoli, Davide Farnetti, Enrico Bonanno, Orsola Longo, Rosina Zaldini, Piera Galli, Elena Balanda, Nicholas Beck, David B. Grayson, Peter C. Pipitone, Nicolò Boiardi, Luigi Salvarani, Carlo |
author_sort | Muratore, Francesco |
collection | PubMed |
description | OBJECTIVE: To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome) from a single‐center cohort of Italian patients with vasculitis, using a clinically oriented phenotype‐first approach. METHODS: We retrospectively reviewed the clinical records of 147 consecutive male patients followed up in our vasculitis clinic from 2013 to date. All patients with a diagnosis of vasculitis and treatment‐resistant manifestations of inflammation, persistently elevated inflammation markers, and hematologic abnormalities were identified. Bone marrow aspirates were examined for the presence of vacuoles. Sequencing of ubiquitin‐activating enzyme E1 (UBA‐1) was performed using genomic DNA from peripheral blood leukocytes or bone marrow tissue. RESULTS: Seven patients with vasculitis and concomitant features of VEXAS syndrome were identified. A final diagnosis of VEXAS syndrome was made in 3 of the 5 patients who underwent sequencing of UBA‐1 (diagnosis was made postmortem for 1 patient). In all 3 patients, examination of the bone marrow aspirate revealed vacuoles characteristic of VEXAS syndrome, and all 3 patients met the definitive World Health Organization criteria for myelodysplastic syndrome. Cytogenetic analysis showed normal karyotypes in all 3 patients. CONCLUSION: To our knowledge, this is the first report of VEXAS syndrome associated with antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis. Our data emphasize the need to consider VEXAS syndrome when evaluating patients with various forms of systemic vasculitis. The novel association between VEXAS syndrome and ANCA‐associated vasculitis reported herein warrants further investigation. |
format | Online Article Text |
id | pubmed-8957507 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wiley Periodicals, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-89575072022-10-14 VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis Muratore, Francesco Marvisi, Chiara Castrignanò, Paola Nicoli, Davide Farnetti, Enrico Bonanno, Orsola Longo, Rosina Zaldini, Piera Galli, Elena Balanda, Nicholas Beck, David B. Grayson, Peter C. Pipitone, Nicolò Boiardi, Luigi Salvarani, Carlo Arthritis Rheumatol Vasculitis OBJECTIVE: To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome) from a single‐center cohort of Italian patients with vasculitis, using a clinically oriented phenotype‐first approach. METHODS: We retrospectively reviewed the clinical records of 147 consecutive male patients followed up in our vasculitis clinic from 2013 to date. All patients with a diagnosis of vasculitis and treatment‐resistant manifestations of inflammation, persistently elevated inflammation markers, and hematologic abnormalities were identified. Bone marrow aspirates were examined for the presence of vacuoles. Sequencing of ubiquitin‐activating enzyme E1 (UBA‐1) was performed using genomic DNA from peripheral blood leukocytes or bone marrow tissue. RESULTS: Seven patients with vasculitis and concomitant features of VEXAS syndrome were identified. A final diagnosis of VEXAS syndrome was made in 3 of the 5 patients who underwent sequencing of UBA‐1 (diagnosis was made postmortem for 1 patient). In all 3 patients, examination of the bone marrow aspirate revealed vacuoles characteristic of VEXAS syndrome, and all 3 patients met the definitive World Health Organization criteria for myelodysplastic syndrome. Cytogenetic analysis showed normal karyotypes in all 3 patients. CONCLUSION: To our knowledge, this is the first report of VEXAS syndrome associated with antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis. Our data emphasize the need to consider VEXAS syndrome when evaluating patients with various forms of systemic vasculitis. The novel association between VEXAS syndrome and ANCA‐associated vasculitis reported herein warrants further investigation. Wiley Periodicals, Inc. 2022-03-03 2022-04 /pmc/articles/PMC8957507/ /pubmed/34611997 http://dx.doi.org/10.1002/art.41992 Text en © 2021 The Authors. Arthritis & Rheumatology published by Wiley Periodicals LLC on behalf of American College of Rheumatology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Vasculitis Muratore, Francesco Marvisi, Chiara Castrignanò, Paola Nicoli, Davide Farnetti, Enrico Bonanno, Orsola Longo, Rosina Zaldini, Piera Galli, Elena Balanda, Nicholas Beck, David B. Grayson, Peter C. Pipitone, Nicolò Boiardi, Luigi Salvarani, Carlo VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis |
title |
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis |
title_full |
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis |
title_fullStr |
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis |
title_full_unstemmed |
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis |
title_short |
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis |
title_sort | vexas syndrome: a case series from a single‐center cohort of italian patients with vasculitis |
topic | Vasculitis |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957507/ https://www.ncbi.nlm.nih.gov/pubmed/34611997 http://dx.doi.org/10.1002/art.41992 |
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