دورية أكاديمية
Pulmonary manifestation of VEXAS syndrome.
| العنوان: | Pulmonary manifestation of VEXAS syndrome. |
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| المؤلفون: | Knab T; Städtische Gesundheitsdienste, Zurich, Switzerland., Gaisl T; Pneumology Department, University Hospital Zurich, Zurich, Switzerland., Steinack C; Pneumology Department, University Hospital Zurich, Zurich, Switzerland., Kallweit T; Department of Medical Oncology and Hematology, University Hospital Zurich, Zurich, Switzerland., Ulrich S; Pneumology Department, University Hospital Zurich, Zurich, Switzerland., Roeder M; Pneumology Department, University Hospital Zurich, Zurich, Switzerland maurice.roeder@usz.ch. |
| المصدر: | BMJ case reports [BMJ Case Rep] 2024 Jul 22; Vol. 17 (7). Date of Electronic Publication: 2024 Jul 22. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : BMJ Pub. Group |
| مواضيع طبية MeSH: | Tomography, X-Ray Computed*, Humans ; Male ; Diagnosis, Differential ; Aged ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/complications ; Cough/etiology ; Dyspnea/etiology ; Uveitis/diagnosis ; Uveitis/drug therapy ; Fever/etiology ; Lung/diagnostic imaging ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/drug therapy ; Hereditary Autoinflammatory Diseases/complications ; Syndrome ; Dermatitis, Exfoliative/diagnosis ; Dermatitis, Exfoliative/etiology ; Cryptogenic Organizing Pneumonia/diagnosis ; Cryptogenic Organizing Pneumonia/drug therapy |
| مستخلص: | This case report presents the diagnostic journey of a man in his mid-70s who experienced shortness of breath, cough, recurrent episodes of fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis of cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen in the lung CT scan. The patient initially responded favourably to immunosuppression but experienced a recurrence of symptoms when the corticosteroid dose was tapered. Despite ongoing systemic inflammation and refractory symptoms, it took nearly a year to establish the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome. This case highlights the challenges in diagnosing and managing VEXAS syndrome due to its recent discovery and limited awareness in the medical community, as well as the need to consider this syndrome as a rare differential diagnosis of therapy-refractory pulmonary infiltrates. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| فهرسة مساهمة: | Keywords: General practice / family medicine; Haematology (incl blood transfusion); Pneumonia (respiratory medicine); Respiratory system; Rheumatology |
| تواريخ الأحداث: | Date Created: 20240722 Date Completed: 20240722 Latest Revision: 20240722 |
| رمز التحديث: | 20240723 |
| DOI: | 10.1136/bcr-2023-258140 |
| PMID: | 39038873 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1757-790X |
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| DOI: | 10.1136/bcr-2023-258140 |