Graziani, Francesca and Ruggio, Aureliano and Iaconelli, Antonio and Verrecchia, Elena and Morrone, Amelia and Antuzzi, Daniela and Crea, Filippo and Manna, Raffaele (2017) Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin. European Journal of Case Reports in Internal Medicine, 4 (7). ISSN 2284-2594
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Abstract
Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipids and subsequent cellular dysfunction, inflammation and fibrosis. Fever is a frequently misinterpreted symptom in the early stages of the disease, leading to diagnostic delay. We present the case of a 35-year-old man admitted to our Periodic Fever Research Centre for long-lasting recurrent episodes of fever of unknown origin. After extensive assessment, we diagnosed AFD associated with a novel GLA mutation. We started enzyme replacement therapy with clinical benefit and complete remission of fever.
| Item Type: | Article |
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| Uncontrolled Keywords: | Anderson-Fabry’s disease; FUO; thermoregulation; enzyme replacement therapy |
| Subjects: | 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: | Chiara D'Arpa |
| Date Deposited: | 20 Nov 2017 16:20 |
| Last Modified: | 20 Nov 2017 16:20 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/16749 |
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