DOI: 10.12890/2017_000645

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

Authors

  • 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

francesca.graziani@policlinicogemelli.it

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

  1. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5.
  2. Weidemann F, Linhart A, Monserrat L, Strotmann J. Cardiac challenges in patients with Fabry disease. Int J Cardiol. 2010 May 14;141(1):3-10. doi: 10.1016/j.ijcard.2009.08.002.
  3. Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A et al. The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. Eur J Intern Med. 2016 Jul;32:26-30. doi: 10.1016/j.ejim.2016.03.015
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Published

2017-09-28

Issue

Vol. 4 No. 7 (2017)

How to Cite

1.
Graziani F, Ruggio A, Iaconelli A, Verrecchia E, Morrone A, Antuzzi D, et al. Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin. EJCRIM [Internet]. 2017 Sep. 28 [cited 2026 Nov. 3];4(7). Available from: https://ejcrim.com/index.php/ejcrim/article/view/645

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