A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis
Roy L. Kao,Audrey A. Jacobsen,Charles J. Billington,Sophia Yohe,Amy Beckman,Gregory M. Vercellotti,David R. Pearson +6 more
Reads0
Chats0
TLDR
In this article, the first case of EBV-associated hemophagocytic lymphohistiocytosis (HLH) was described in a patient diagnosed with VEXAS syndrome.Abstract:
Vacuoles, E1, X-linked, autoimmunity, somatic (VEXAS) syndrome is characterized by a pathogenic mutation in UBA1, which leads to protean complications including autoimmunity and myelodysplasia. A 56-year-old man with steroid-dependent, later steroid-refractory cutaneous polyarteritis nodosa and Sweet syndrome developed recurrent daily fever, macrocytic anemia, thrombocytopenia, acute hypoxic respiratory failure, and anasarca. He was eventually diagnosed with Epstein-Barr virus (EBV) viremia and hemophagocytic lymphohistiocytosis (HLH). He improved clinically with rituximab, ruxolitinib, and increased glucocorticoids before expiring from Pseudomonas sepsis. UBA1 exon 3 mutational analysis in myeloid enriched peripheral blood revealed a c.122T>C (p.Met41Thr) pathogenic variant, consistent with VEXAS syndrome. We describe the first case of EBV-associated HLH in a patient diagnosed with VEXAS syndrome. Early identification of this syndrome will be important in order to offer potential therapies before life-threatening complications arise.read more
Citations
More filters
Journal ArticleDOI
Vasculitis associated with VEXAS syndrome: A literature review
TL;DR: Vasculitis can be an initial manifestation of VEXAS syndrome, a novel autoinflammatory syndrome that connects seemingly unrelated conditions: inflammatory syndromes and hematologic disorders (myelodysplastic syndrome or multiple myeloma).
Journal ArticleDOI
Mimickers of Large Vessel Giant Cell Arteritis
TL;DR: The main differential diagnoses to be considered regarding large vessel vasculitis are proposed, including cranial GCA, large-vessel GCA and associated polymyalgia rheumatica.
Journal ArticleDOI
Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review
TL;DR: In this article , a systematic review aimed to summarize respiratory manifestations in VEXAS syndrome described to date, and the most frequently described pulmonary manifestation was infiltrates (43.1%, n = 116), followed by pleural effusion (7.4%), nonspecific interstitial pneumonia (n = 1), bronchiolitis obliterans (N = 3), pulmonary vasculitis (N 3), bronchiectasis (N 2 ), alveolar haemorrhage (N 1 ), pulmonary embolism (N 4 ), bronchial stenosis (N 5 ), and alveolitis (N 0.3%).
Journal ArticleDOI
JAK inhibitors for the treatment of VEXAS syndrome
TL;DR: In this paper , the authors carried out a brief literature review that includes cohorts and single cases in which JAK-I were adopted as a promising strategy to manage VEXAS patients.
Journal ArticleDOI
Somatic mutations in VEXAS Syndrome and Erdheim-Chester disease: Inflammatory myeloid diseases.
TL;DR: The impact of causal and associated somatic mutations in VEXAS and ECD at both clinical and molecular levels are discussed.
References
More filters
Journal ArticleDOI
Adult haemophagocytic syndrome
Manuel Ramos-Casals,Pilar Brito-Zerón,Armando López-Guillermo,Munther A. Khamashta,Xavier Bosch +4 more
TL;DR: Analysis of the genetic and molecular pathophysiology of these syndromes have improved the understanding of the crosstalk between lymphocytes and histiocytes and their regulatoty mechanisms, and it is essential to initiate appropriate treatment and improve the quality of life and survival of patients with this challenging disorder.
Journal ArticleDOI
Development and validation of the HScore, a score for the diagnosis of reactive hemophagocytic syndrome.
Laurence Fardet,Lionel Galicier,Olivier Lambotte,Christophe Marzac,Cedric Aumont,Doumit Chahwan,Paul Coppo,Gilles Hejblum +7 more
TL;DR: Because it has no unique clinical, biologic, or histologic features, reactive hemophagocytic syndrome may be difficult to distinguish from other diseases such as severe sepsis or hematologic malignancies.
Journal ArticleDOI
Recommendations for the management of hemophagocytic lymphohistiocytosis in adults
Paul La Rosée,AnnaCarin Horne,Melissa Hines,Tatiana von Bahr Greenwood,Rafał Machowicz,Nancy Berliner,Sebastian Birndt,Juana Gil-Herrera,Michael Girschikofsky,Michael B. Jordan,Ashok Kumar,Jan A M van Laar,Gunnar Lachmann,Kim E. Nichols,Athimalaipet V Ramanan,Yini Wang,Zhao Wang,Gritta Janka,Jan-Inge Henter +18 more
TL;DR: In this article, the authors present expert opinions derived from an interdisciplinary working group on adult HLH, sponsored by the Histiocyte Society, to facilitate knowledge transfer between physicians caring for pediatric and adult patients with HLH with the aim to improve the outcome for adult patients affected by HLH.
Journal ArticleDOI
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
David B. Beck,Marcela A. Ferrada,Keith A. Sikora,Amanda K. Ombrello,Jason C. Collins,Wuhong Pei,Nicholas Balanda,Daron L. Ross,Daniela Ospina Cardona,Zhijie Wu,Bhavisha A Patel,Kalpana Manthiram,Emma M. Groarke,Fernanda Gutierrez-Rodrigues,Patrycja Hoffmann,Sofia Rosenzweig,Shuichiro Nakabo,Laura W. Dillon,Christopher S. Hourigan,Wanxia L. Tsai,Sarthak Gupta,Carmelo Carmona-Rivera,Anthony J. Asmar,Lisha Xu,Hirotsugu Oda,Wendy Goodspeed,Karyl S. Barron,Michele Nehrebecky,Anne Jones,Ryan S. Laird,Natalie Deuitch,Dorota Rowczenio,Emily Rominger,Kristina V. Wells,Chyi-Chia Richard Lee,Weixin Wang,Megan Trick,James C. Mullikin,Gustaf Wigerblad,Stephen R. Brooks,Stefania Dell'Orso,Zuoming Deng,Jae Jin Chae,Alina Dulau-Florea,May Christine V. Malicdan,Danica Novacic,Robert A. Colbert,Mariana J. Kaplan,Massimo Gadina,Sinisa Savic,Helen J. Lachmann,Mones Abu-Asab,Benjamin D. Solomon,Kyle Retterer,William A. Gahl,Shawn M. Burgess,Ivona Aksentijevich,Neal S. Young,Katherine R. Calvo,Achim Werner,Daniel L. Kastner,Peter C. Grayson +61 more
TL;DR: Using a genotype-driven approach, this disorder is identified that connects seemingly unrelated adult-onset inflammatory syndromes and is named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
Journal ArticleDOI
Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens
Deepak Chellapandian,Rupali Das,Kristin Zelley,Susan J. Wiener,Huaqing Zhao,David T. Teachey,Kim E. Nichols +6 more
TL;DR: Examination of laboratory data obtained prior to and within 2–4 weeks after the first rituximab dose revealed significant reductions in EBV load and serum ferritin levels, which support the incorporation of ritUXimab into future prospective clinical trials for patients with EBV‐HLH.