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 ?-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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References

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  • Published: 2017-09-28

    Issue: Vol. 4 No. 7 (view)

    Section: Articles

    How to cite:
    1.
    Graziani F, Ruggio A, Iaconelli A, Verrecchia E, Morrone A, Antuzzi D, Crea F, Manna R. Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin. EJCRIM 2017;4 doi:10.12890/2017_000645.

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