1. Pulmonary manifestation of VEXAS syndrome.
- Author
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Knab T, Gaisl T, Steinack C, Kallweit T, Ulrich S, and Roeder M
- Subjects
- 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, Tomography, X-Ray Computed
- Abstract
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.)
- Published
- 2024
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