VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with VEXAS syndrome and comorbid myelodysplastic syndrome (MDS) aims t...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-02-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/13/4/1049 |
| _version_ | 1797297883700002816 |
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| author | Virginie Kreutzinger Anne Pankow Zhivana Boyadzhieva Udo Schneider Katharina Ziegeler Lars Uwe Stephan Jan Carl Kübke Sebastian Schröder Christian Oberender Philipp le Coutre Sebastian Stintzing Ivan Jelas |
| author_facet | Virginie Kreutzinger Anne Pankow Zhivana Boyadzhieva Udo Schneider Katharina Ziegeler Lars Uwe Stephan Jan Carl Kübke Sebastian Schröder Christian Oberender Philipp le Coutre Sebastian Stintzing Ivan Jelas |
| author_sort | Virginie Kreutzinger |
| collection | DOAJ |
| description | VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with VEXAS syndrome and comorbid myelodysplastic syndrome (MDS) aims to describe clinical, imaging, and hematologic disease presentations as well as response to therapy. Four patients with VEXAS syndrome and MDS are described. A detailed analysis of imaging features, hemato-oncological presentation including bone marrow microscopy and clinical–rheumatological disease features and treatment outcomes is given. All patients were male; ages ranged between 64 and 81 years; all were diagnosed with MDS. CT imaging was available for three patients, all of whom exhibited pulmonary infiltrates of varying severity, resembling COVID-19 or hypersensitivity pneumonitis without traces of scarring. Bone marrow microscopy showed maturation-disordered erythropoiesis and pathognomonic vacuolation. Somatic mutation in the <i>UBA1</i> codon 41 were found in all patients by next-generation sequencing. Therapy regimes included glucocorticoids, JAK1/2-inhibitors, nucleoside analogues, as well as IL-1 and IL-6 receptor antagonists. No fatalities occurred (observation period from symptom onset: 18–68 months). Given the potential underreporting of VEXAS syndrome, we highly recommend contemporary screening for <i>UBA1</i> mutations in patients presenting with ambiguous signs of systemic autoinflammatory symptoms which persist over 18 months despite treatment. The emergence of cytopenia, especially macrocytic hyperchromic anemia, should prompt early testing for <i>UBA1</i> mutations. Notably conspicuous, pulmonary alterations in CT imaging of patients with therapy-resistant systemic autoinflammatory symptoms should be discussed in interdisciplinary medical teams (Rheumatology, Hematology, Radiology and further specialist departments) to facilitate timely diagnosis during the clinical course of the disease. |
| first_indexed | 2024-03-07T22:26:53Z |
| format | Article |
| id | doaj.art-9facf3ef4dea4d0885b4bef8d0e029aa |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-07T22:26:53Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-9facf3ef4dea4d0885b4bef8d0e029aa2024-02-23T15:22:08ZengMDPI AGJournal of Clinical Medicine2077-03832024-02-01134104910.3390/jcm13041049VEXAS and Myelodysplastic Syndrome: An Interdisciplinary ChallengeVirginie Kreutzinger0Anne Pankow1Zhivana Boyadzhieva2Udo Schneider3Katharina Ziegeler4Lars Uwe Stephan5Jan Carl Kübke6Sebastian Schröder7Christian Oberender8Philipp le Coutre9Sebastian Stintzing10Ivan Jelas11Department of Radiology, Vivantes Klinikum im Friedrichshain, 10249 Berlin, GermanyDepartment of Rheumatology and Clinical Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Rheumatology and Clinical Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Rheumatology and Clinical Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyDepartment of Hematology, Oncology, and Cancer Immunology, Campus Charité Mitte, Charitéplatz 1, 10117 Berlin, GermanyVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with VEXAS syndrome and comorbid myelodysplastic syndrome (MDS) aims to describe clinical, imaging, and hematologic disease presentations as well as response to therapy. Four patients with VEXAS syndrome and MDS are described. A detailed analysis of imaging features, hemato-oncological presentation including bone marrow microscopy and clinical–rheumatological disease features and treatment outcomes is given. All patients were male; ages ranged between 64 and 81 years; all were diagnosed with MDS. CT imaging was available for three patients, all of whom exhibited pulmonary infiltrates of varying severity, resembling COVID-19 or hypersensitivity pneumonitis without traces of scarring. Bone marrow microscopy showed maturation-disordered erythropoiesis and pathognomonic vacuolation. Somatic mutation in the <i>UBA1</i> codon 41 were found in all patients by next-generation sequencing. Therapy regimes included glucocorticoids, JAK1/2-inhibitors, nucleoside analogues, as well as IL-1 and IL-6 receptor antagonists. No fatalities occurred (observation period from symptom onset: 18–68 months). Given the potential underreporting of VEXAS syndrome, we highly recommend contemporary screening for <i>UBA1</i> mutations in patients presenting with ambiguous signs of systemic autoinflammatory symptoms which persist over 18 months despite treatment. The emergence of cytopenia, especially macrocytic hyperchromic anemia, should prompt early testing for <i>UBA1</i> mutations. Notably conspicuous, pulmonary alterations in CT imaging of patients with therapy-resistant systemic autoinflammatory symptoms should be discussed in interdisciplinary medical teams (Rheumatology, Hematology, Radiology and further specialist departments) to facilitate timely diagnosis during the clinical course of the disease.https://www.mdpi.com/2077-0383/13/4/1049autoinflammationimagingmyelodysplastic syndromeVEXAS syndrome |
| spellingShingle | Virginie Kreutzinger Anne Pankow Zhivana Boyadzhieva Udo Schneider Katharina Ziegeler Lars Uwe Stephan Jan Carl Kübke Sebastian Schröder Christian Oberender Philipp le Coutre Sebastian Stintzing Ivan Jelas VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge Journal of Clinical Medicine autoinflammation imaging myelodysplastic syndrome VEXAS syndrome |
| title | VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge |
| title_full | VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge |
| title_fullStr | VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge |
| title_full_unstemmed | VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge |
| title_short | VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge |
| title_sort | vexas and myelodysplastic syndrome an interdisciplinary challenge |
| topic | autoinflammation imaging myelodysplastic syndrome VEXAS syndrome |
| url | https://www.mdpi.com/2077-0383/13/4/1049 |
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