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Fabry Disease Case Finding Studies in High-Risk Populations

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Fabry Disease

Abstract

Because Fabry disease is medically important and effective interventions exist, an early diagnosis in symptomatic individuals would be desirable. However, the diagnosis is often delayed for several years after first symptoms have developed. One approach to overcome this clinical deficit is case finding studies among people with medical problems typically found in Fabry disease patients. During the last decade such studies revealed a surprising high prevalence of Fabry disease among patients with chronic kidney disease, heart disease, or stroke. Because specific treatment is available, several experts endorsed case finding studies in high risk populations within an organized frame or even routine testing of individuals with stroke, kidney- or heart disease. The methodologies recommended for case finding strategies include testing for enzyme activity in dried blood spots or examination of urine specimen for increased excretion of globotriaosylceramide. Together with newborn screening the results of large case finding studies among patients with stroke, left ventricular hypertrophy, or chronic kidney disease will allow for a better approximation of the true prevalence of the disease and will probably result in an improvement of clinical care of affected individuals.

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Financial Conflict of Interest Statement

Gere Sunder-Plassmann: honoraria, research grants, travel grants from Shire HGT and Genzyme

Manuela Födinger: Research support from Genzyme.

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Authors and Affiliations

  1. Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria

    Gere Sunder-Plassmann

  2. Institute of Laboratory Medicine, Sozialmedizinisches Zentrum Süd, Vienna, Austria

    Manuela Födinger

Authors
  1. Gere Sunder-Plassmann
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  2. Manuela Födinger
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Correspondence to Gere Sunder-Plassmann .

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Editors and Affiliations

  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Sunder-Plassmann, G., Födinger, M. (2010). Fabry Disease Case Finding Studies in High-Risk Populations. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_8

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  • DOI: https://doi.org/10.1007/978-90-481-9033-1_8

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  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-481-9032-4

  • Online ISBN: 978-90-481-9033-1

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