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Anderson-Fabry Disease

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Anderson-Fabry disease is a multisystemic lysosomal storage disorder due to a deficiency of α-galactosidase A resulting in an accumulation of neutral glycosphingolipids. Due to its rare occurrence the disease is often misdiagnosed or the correct diagnose is delayed for many years (Weidemann et al. 2008). Dermatologists except ophthalmologists play the most important role for early diagnosis of this disorder, which can now be treated by enzyme replacement therapy. Otherwise, Anderson-Fabry disease is a lethal disorder, renal disease or stroke being the most important causes of death (Grünfeld et al. 2002, Desnick et al. 2003). Early diagnosis and treatment is essential to limit organ damage (Hauser et al. 2004b, Branton et al. 2002).

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Authors and Affiliations

  1. Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währingergürtel 18-20, 1090, Vienna, Austria

    Anna-Christine Hauser

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  1. Anna-Christine Hauser
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  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Hauser, AC. (2008). Anderson-Fabry Disease. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_67

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