Himmelmann, Andreas and Brücker, Rolf (2021) The VEXAS Syndrome: Uncontrolled Inflammation and Macrocytic Anaemia in a 77-Year-Old Male Patient. European Journal of Case Reports in Internal Medicine, 8 (4). pp. 1-3. ISSN ISSN: 2284-2594
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Abstract
The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described X-linked autoinflammatory condition caused by a somatic mutation of the UBA1 gene and characterized by an evolving phenotype. This includes inflammatory processes such as recurrent fever, Sweet’s syndrome of the skin, pulmonary fibrosis, relapsing polychondritis and venous thromboembolism. An important feature, present in almost all cases, is the development of a macrocytic anaemia with vacuolization of myeloid and erythroid precursors. Usually, these patients require high doses of steroids to control symptoms and respond poorly to disease-modifying drugs. We describe a new case of the VEXAS syndrome presenting with Sweet’s syndrome which has now been followed for 6 years. Andreas Himmelmann1, Rolf Brücker2
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Inflammatory syndromes, somatic mutation, macrocytic anemia |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 21 Dec 2021 15:05 |
| Last Modified: | 21 Dec 2021 15:05 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21228 |
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