Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker

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Global Journal of Medical and Clinical Case Reports volume1-issue2 articles
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Submitted: September 28, 2014
Published: Oct 15, 2014
DOI: 10.17352/2455-5282.000012
Keywords:
Fabry disease, Angiokeratoma, Child

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Jelena Roganovic*
Department of Pediatrics, University Children's Hospital, Rijeka, Croatia
Ingeborg Barisic
Department of Pediatrics, Children's Hospital Zagreb, Zagreb, Croatia
Nives Jonjic
Department of Pathology and Pathological Anatomy, School of Medicine, University of Rijeka, Croatia
Ksenija Fumic
Department of Laboratory Diagnostics, Clinical Hospital Center Zagreb, Croatia
Ana Dordevic
Faculty of Pharmacy, University of Trieste, Italy

Abstract

Introduction: Fabry disease (FD) is a rare metabolic disorder that leads to severe morbidity and premature mortality as a result of cardiac, renal or cerebrovascular complications. Enzyme replacement therapy (ERT) has been shown to provide clinically important benefits, and treatment is likely to alter the natural history of FD.


Case Report: The authors describe a 7-year-old boy with FD. Vascular skin lesions were very helpful in guiding appropriate investigations leading to prompt diagnosis. Because of multisystem involvement, including signs of nephropathy, ERT was started. The boy showed catch-up growth with skeletal maturation, and albuminuria reversed. However, angiokeratomas increased in size and number.


Conclusion: The most recognizable early physical sign of FD is angiokeratoma, which can play a critical role in the detection of the disease. However, there is no compelling evidence that angiokeratoma can serve as a surrogate marker for the course of the disease or the efficacy of ERT.

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Article Details

Roganovic, J., Barisic, I., Jonjic, N., Fumic, K., & Dordevic, A. (2014). Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker. Global Journal of Medical and Clinical Case Reports, 1(2), 035–036. https://doi.org/10.17352/2455-5282.000012
Case Reports

Copyright (c) 2014 Roganovic J, et al.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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