Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin

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

645-3873-1-PB.pdf - Published Version

Download (274kB) | Preview
Official URL:


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
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

Actions (login required)

View Item View Item