Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker

<p><strong>Introduction:</strong> 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 b...

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Main Authors: Jelena Roganovic (Author), Ingeborg Barisic (Author), Nives Jonjic (Author), Ksenija Fumic (Author), Ana Dordevic (Author)
Format: Book
Published: Global Journal of Medical and Clinical Case Reports - Peertechz Publications, 2014-10-15.
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042 |a dc 
100 1 0 |a Jelena Roganovic  |e author 
700 1 0 |a  Ingeborg Barisic  |e author 
700 1 0 |a  Nives Jonjic  |e author 
700 1 0 |a  Ksenija Fumic  |e author 
700 1 0 |a  Ana Dordevic  |e author 
245 0 0 |a Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker 
260 |b Global Journal of Medical and Clinical Case Reports - Peertechz Publications,   |c 2014-10-15. 
520 |a <p><strong>Introduction:</strong> 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. </p><p><strong>Case Report:</strong> 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.</p><p><strong>Conclusion:</strong> 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.</p> 
540 |a Copyright © Jelena Roganovic et al. 
546 |a en 
655 7 |a Case Report  |2 local 
856 4 1 |u https://doi.org/10.17352/2455-5282.000012  |z Connect to this object online.