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Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.

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Τίτλος: Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.
Συγγραφείς: Burul G; Department of Hematology, İstanbul Başakşehir Çam and Sakura City Hospital, G-434 Street No: 2L, Basaksehir, Istanbul, 34480, Turkey. gokhanburul@hotmail.com., Karaoglan Ç; Department of Pathology, İstanbul Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey., Bektaş E; Department of Rheumatology, İstanbul Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey., Bes C; Department of Rheumatology, İstanbul Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey., Kaynar L; Department of Hematology, Medipol University, Istanbul, Turkey., Serin İ; Department of Hematology, İstanbul Başakşehir Çam and Sakura City Hospital, G-434 Street No: 2L, Basaksehir, Istanbul, 34480, Turkey., Öngören Ş; Department of Hematology, İstanbul Başakşehir Çam and Sakura City Hospital, G-434 Street No: 2L, Basaksehir, Istanbul, 34480, Turkey.
Πηγή: Journal of hematopathology [J Hematop] 2026 Oct 06; Vol. 19 (1). Date of Electronic Publication: 2026 Oct 06.
Τύπος έκδοσης: Journal Article; Case Reports
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Springer Country of Publication: Germany NLM ID: 101491976 Publication Model: Electronic Cited Medium: Internet ISSN: 1865-5785 (Electronic) Linking ISSN: 18655785 NLM ISO Abbreviation: J Hematop Subsets: MEDLINE
Imprint Name(s): Original Publication: Berlin ; Heidelberg : Springer
Ιατρικοί όροι (MeSH): Orbital Cellulitis*/diagnosis , Orbital Cellulitis*/therapy , Hematopoietic Stem Cell Transplantation*, Ubiquitin-Activating Enzymes/genetics ; Humans ; Male ; Adult ; Diagnosis, Differential ; Transplantation, Homologous ; Syndrome ; Treatment Outcome ; Myelodysplastic Syndromes ; Skin Diseases, Genetic
Περίληψη: Background: VEXAS syndrome is a somatic autoinflammatory disorder caused by UBA1 mutations in hematopoietic progenitor cells, typically affecting older men and characterized by systemic inflammation and hematologic abnormalities. Early-onset cases are extremely rare.
Case Presentation: We report a 25-year-old male patient presenting with recurrent fever, weight loss, arthralgia, and inflammation mimicking orbital cellulitis. Imaging demonstrated orbital soft tissue inflammation. Laboratory investigations revealed macrocytic anemia, leukopenia, thrombocytopenia, and elevated inflammatory markers; FDG-PET/CT showed splenomegaly and hypermetabolic lymphadenopathy. Bone marrow examination revealed hypercellularity, multilineage morphological abnormalities, and vacuolated blasts. Following exclusion of infectious and classical autoinflammatory diseases, the somatic UBA1 c.121A > G (p.Met41Val) mutation confirmed VEXAS syndrome. The patient initially responded to corticosteroids but subsequently developed refractory disease and progressive pancytopenia despite tocilizumab therapy. He underwent allogeneic hematopoietic stem cell transplantation from a 10/10 HLA-matched sibling donor using a myeloablative conditioning regimen. At 3 months post-transplantation, 99% donor chimerism and hematologic remission were achieved.
Conclusion: VEXAS syndrome should be considered in young adults presenting with unexplained systemic inflammation and cytopenias, even with atypical manifestations such as orbital cellulitis. Early genetic evaluation is crucial for diagnosis, and allogeneic stem cell transplantation may provide effective disease control in refractory cases.
(© 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Competing Interests: Declarations. Funding: Funding not applicable. Conflict of interest: The authors declare that they have no conflicts of interest relevant to this article. Ethical approval: For this type of study, formal ethical approval was not required. Consent for publication: Written informed consent was obtained from the patient for publication of this case report and any accompanying images.
References: Mayo Clin Proc. 2021 Oct;96(10):2653-2659. (PMID: 34489099)
Rheumatology (Oxford). 2024 Mar 1;63(3):e99-e100. (PMID: 37740251)
Am J Hematol. 2024 Feb;99(2):284-299. (PMID: 37950858)
Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. (PMID: 33779074)
Blood. 2022 Sep 29;140(13):1496-1506. (PMID: 35793467)
Blood Adv. 2021 Aug 24;5(16):3203-3215. (PMID: 34427584)
Nat Rev Mol Cell Biol. 2009 May;10(5):319-31. (PMID: 19352404)
Blood Adv. 2022 Feb 8;6(3):998-1003. (PMID: 34714914)
N Engl J Med. 2020 Dec 31;383(27):2628-2638. (PMID: 33108101)
Br J Dermatol. 2022 Mar;186(3):564-574. (PMID: 34632574)
Contributed Indexing: Keywords: Allogeneic hematopoietic stem cell transplantation; Ocular inflammation; Orbital cellulitis; UBA1 mutation; VEXAS syndrome
Substance Nomenclature: EC 6.2.1.45 (Ubiquitin-Activating Enzymes)
SCR Disease Name: VEXAS syndrome
Entry Date(s): Date Created: 20261006 Date Completed: 20261006 Latest Revision: 20261010
Update Code: 20261010
DOI: 10.1007/s12308-026-00741-2
PMID: 42836952
Βάση Δεδομένων: MEDLINE
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  – Url: https://dx.doi.org/doi:10.1007/s12308-026-00741-2
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  Data: Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.
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  Data: <searchLink fieldCode="AU" term="%22Burul+G%22">Burul G</searchLink>; Department of Hematology, İstanbul Başakşehir Çam and Sakura City Hospital, G-434 Street No: 2L, Basaksehir, Istanbul, 34480, Turkey. gokhanburul@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Karaoglan+Ç%22">Karaoglan Ç</searchLink>; Department of Pathology, İstanbul Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Bektaş+E%22">Bektaş E</searchLink>; Department of Rheumatology, İstanbul Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Bes+C%22">Bes C</searchLink>; Department of Rheumatology, İstanbul Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Kaynar+L%22">Kaynar L</searchLink>; Department of Hematology, Medipol University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Serin+İ%22">Serin İ</searchLink>; Department of Hematology, İstanbul Başakşehir Çam and Sakura City Hospital, G-434 Street No: 2L, Basaksehir, Istanbul, 34480, Turkey.<br /><searchLink fieldCode="AU" term="%22Öngören+Ş%22">Öngören Ş</searchLink>; Department of Hematology, İstanbul Başakşehir Çam and Sakura City Hospital, G-434 Street No: 2L, Basaksehir, Istanbul, 34480, Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101491976%22">Journal of hematopathology</searchLink> [J Hematop] 2026 Oct 06; Vol. 19 (1). <i>Date of Electronic Publication: </i>2026 Oct 06.
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  Data: <searchLink fieldCode="MM" term="%22Orbital+Cellulitis%22">Orbital Cellulitis*</searchLink>/<searchLink fieldCode="MM" term="%22Orbital+Cellulitis+diagnosis%22">diagnosis</searchLink> <br /><searchLink fieldCode="MM" term="%22Orbital+Cellulitis%22">Orbital Cellulitis*</searchLink>/<searchLink fieldCode="MM" term="%22Orbital+Cellulitis+therapy%22">therapy</searchLink> <br /><searchLink fieldCode="MM" term="%22Hematopoietic+Stem+Cell+Transplantation%22">Hematopoietic Stem Cell Transplantation*</searchLink><br /><searchLink fieldCode="MH" term="%22Ubiquitin-Activating+Enzymes%22">Ubiquitin-Activating Enzymes</searchLink>/<searchLink fieldCode="MH" term="%22Ubiquitin-Activating+Enzymes+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink> ; <searchLink fieldCode="MH" term="%22Male%22">Male</searchLink> ; <searchLink fieldCode="MH" term="%22Adult%22">Adult</searchLink> ; <searchLink fieldCode="MH" term="%22Diagnosis%2C+Differential%22">Diagnosis, Differential</searchLink> ; <searchLink fieldCode="MH" term="%22Transplantation%2C+Homologous%22">Transplantation, Homologous</searchLink> ; <searchLink fieldCode="MH" term="%22Syndrome%22">Syndrome</searchLink> ; <searchLink fieldCode="MH" term="%22Treatment+Outcome%22">Treatment Outcome</searchLink> ; <searchLink fieldCode="MH" term="%22Myelodysplastic+Syndromes%22">Myelodysplastic Syndromes</searchLink> ; <searchLink fieldCode="MH" term="%22Skin+Diseases%2C+Genetic%22">Skin Diseases, Genetic</searchLink>
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  Data: Background: VEXAS syndrome is a somatic autoinflammatory disorder caused by UBA1 mutations in hematopoietic progenitor cells, typically affecting older men and characterized by systemic inflammation and hematologic abnormalities. Early-onset cases are extremely rare.<br />Case Presentation: We report a 25-year-old male patient presenting with recurrent fever, weight loss, arthralgia, and inflammation mimicking orbital cellulitis. Imaging demonstrated orbital soft tissue inflammation. Laboratory investigations revealed macrocytic anemia, leukopenia, thrombocytopenia, and elevated inflammatory markers; FDG-PET/CT showed splenomegaly and hypermetabolic lymphadenopathy. Bone marrow examination revealed hypercellularity, multilineage morphological abnormalities, and vacuolated blasts. Following exclusion of infectious and classical autoinflammatory diseases, the somatic UBA1 c.121A > G (p.Met41Val) mutation confirmed VEXAS syndrome. The patient initially responded to corticosteroids but subsequently developed refractory disease and progressive pancytopenia despite tocilizumab therapy. He underwent allogeneic hematopoietic stem cell transplantation from a 10/10 HLA-matched sibling donor using a myeloablative conditioning regimen. At 3 months post-transplantation, 99% donor chimerism and hematologic remission were achieved.<br />Conclusion: VEXAS syndrome should be considered in young adults presenting with unexplained systemic inflammation and cytopenias, even with atypical manifestations such as orbital cellulitis. Early genetic evaluation is crucial for diagnosis, and allogeneic stem cell transplantation may provide effective disease control in refractory cases.<br /> (© 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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  Label: Competing Interests
  Group: Ab
  Data: Declarations. Funding: Funding not applicable. Conflict of interest: The authors declare that they have no conflicts of interest relevant to this article. Ethical approval: For this type of study, formal ethical approval was not required. Consent for publication: Written informed consent was obtained from the patient for publication of this case report and any accompanying images.
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  Data: Mayo Clin Proc. 2021 Oct;96(10):2653-2659. (PMID: <searchLink fieldCode="PM" term="%2234489099%22">34489099)</searchLink><br />Rheumatology (Oxford). 2024 Mar 1;63(3):e99-e100. (PMID: <searchLink fieldCode="PM" term="%2237740251%22">37740251)</searchLink><br />Am J Hematol. 2024 Feb;99(2):284-299. (PMID: <searchLink fieldCode="PM" term="%2237950858%22">37950858)</searchLink><br />Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. (PMID: <searchLink fieldCode="PM" term="%2233779074%22">33779074)</searchLink><br />Blood. 2022 Sep 29;140(13):1496-1506. (PMID: <searchLink fieldCode="PM" term="%2235793467%22">35793467)</searchLink><br />Blood Adv. 2021 Aug 24;5(16):3203-3215. (PMID: <searchLink fieldCode="PM" term="%2234427584%22">34427584)</searchLink><br />Nat Rev Mol Cell Biol. 2009 May;10(5):319-31. (PMID: <searchLink fieldCode="PM" term="%2219352404%22">19352404)</searchLink><br />Blood Adv. 2022 Feb 8;6(3):998-1003. (PMID: <searchLink fieldCode="PM" term="%2234714914%22">34714914)</searchLink><br />N Engl J Med. 2020 Dec 31;383(27):2628-2638. (PMID: <searchLink fieldCode="PM" term="%2233108101%22">33108101)</searchLink><br />Br J Dermatol. 2022 Mar;186(3):564-574. (PMID: <searchLink fieldCode="PM" term="%2234632574%22">34632574)</searchLink>
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