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: 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. - In: EUROPEAN JOURNAL OF CASE REPORTS IN INTERNAL MEDICINE. - ISSN 2284-2594. - STAMPA. - 3:(2017), pp. 347-349. [10.12890/2017_000645]
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin
Amelia Morrone;
2017
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.File | Dimensione | Formato | |
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Graziani et al EJCase report Internal Med 2017 645-Article Text-3873-1-10-20170630.pdf
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