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

  • Francesca Graziani Department of Cardiovascular Medicine, Catholic University of the Sacred Heart, Rome
  • Aureliano Ruggio Department of Cardiovascular Medicine, Catholic University of the Sacred Heart, Rome
  • Antonio Iaconelli Department of Cardiovascular Medicine, Catholic University of the Sacred Heart, Rome, Italy
  • Elena Verrecchia Periodic Fever Research Centre, A. Gemelli Policlinic, Catholic University of the Sacred Heart, Rome
  • Amelia Morrone Laboratory for Molecular and Cell Biology of Neurologic and Metabolic Disorders, Paediatric Neurology Unit, Meyer Children's Hospital, Florence
  • Daniela Antuzzi Department of Paediatric Sciences, A. Gemelli Policlinic, Rome
  • Filippo Crea Department of Cardiovascular Medicine, Catholic University of the Sacred Heart, Rome
  • Raffaele Manna Periodic Fever Research Centre, A. Gemelli Policlinic, Catholic University of the Sacred Heart, Rome
Keywords: Anderson-Fabry’s disease, FUO, thermoregulation, enzyme replacement therapy

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.

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Published: 2017-09-28

Issue: Vol 4 No 7 (view)

Section: Articles

How to cite:
Graziani, F., Ruggio, A., Iaconelli, A., Verrecchia, E., Morrone, A., Antuzzi, D., Crea, F., & Manna, R. (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). https://doi.org/https://doi.org/10.12890/2017_000645