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Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin
Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi, Filippo Crea, Raffaele Manna
European Journal of Case Reports in Internal Medicine - © EFIM


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.


Anderson-Fabry’s disease; FUO; thermoregulation; enzyme replacement therapy

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