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FabryScan: a screening tool for early detection of Fabry disease

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Abstract

Fabry disease, an X-linked lipid storage disorder, is associated early morbidity and mortality. Since enzyme replacement therapy is available, accurate detection of unrecognized cases is important. Characteristic early symptoms are recurrent episodes of burning and lancinating pain in the distal extremities associated with small fiber neuropathy. The aim was to develop and validate an easy diagnostic questionnaire in combination with three simple bedside tests, the “FabryScan”, for the detection of Fabry disease in patients with chronic extremity pain. Questions related to relevant clinical characteristics of Fabry disease (mainly related to pain) were compiled by Fabry specialists and pain experts. Furthermore, three bedside tests assessing sensory small and large fiber function were established. The provisional version was tested in a prospective multicenter trial of 138 patients with chronic extremity pain due to Fabry disease (n = 55), painful polyneuropathy (n = 40), and rheumatoid arthritis (n = 43). Identification of the most discriminant combinations of items for Fabry disease and their calculation of sensitivity and specificity were based on multivariate analyses. We retained only 10 questions and three bedside tests for the final version of the FabryScan. A cut-off score of 12/33 (corresponding to the number of positive points) resulted in a high proportion of correctly identified patients (76 %) with a sensitivity of 88 % and a specificity of 87 %. The FabryScan is a combination of a brief and simple questionnaire with three simple bedside tests with good discriminative value for the identification of Fabry patients in patients with chronic extremity pain.

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Acknowledgments

We are indebted to all patients that participated in this research project.

Conflicts of interest

The research site in Kiel was supported by Genzyme GmbH, Neu Isenburg, Germany. The members of the AMC did not receive any funding by Genzyme GmbH.

Ethical standard

All human studies must state that they have been approved by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

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Authors and Affiliations

  1. Division of Neurological Pain Research and Therapy, Christian-Albrechts-Universität Kiel, Haus 41, Arnold-Heller-Str. 3, 24105, Kiel, Germany

    Kathrin Arning, Dennis Naleschinski, Rainer Maag, Andreas Binder & Ralf Baron

  2. Department of Neurology, Christian-Albrechts-Universität Kiel, Kiel, Germany

    Kathrin Arning, Dennis Naleschinski, Rainer Maag, Andreas Binder & Ralf Baron

  3. Division of Endocrinology and Metabolism, Department of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands

    Marieke Biegstraaten & Carla E. M. Hollak

  4. Institute of Medical Psychology and Medical Sociology, Center of Nervous Diseases, Medical Faculty, University of Rostock, Rostock, Germany

    Peter Kropp & Jürgen Lorenzen

  5. Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands

    Ivo N. van Schaik

  6. Center of Internal Rheumatology, Sophienblatt 1, Kiel, Germany

    Pontus Harten

  7. 2nd Medical Clinic, Christian-Albrechts-Universität Kiel, Kiel, Germany

    Rainald A. Zeuner

Authors
  1. Kathrin Arning
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  2. Dennis Naleschinski
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  3. Rainer Maag
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  4. Marieke Biegstraaten
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  5. Peter Kropp
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  6. Jürgen Lorenzen
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  7. Carla E. M. Hollak
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  8. Ivo N. van Schaik
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  9. Pontus Harten
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  10. Rainald A. Zeuner
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  11. Andreas Binder
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  12. Ralf Baron
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Corresponding author

Correspondence to Dennis Naleschinski.

Additional information

K. Arning, D. Naleschinski contributed equally.

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Arning, K., Naleschinski, D., Maag, R. et al. FabryScan: a screening tool for early detection of Fabry disease. J Neurol 259, 2393–2400 (2012). https://doi.org/10.1007/s00415-012-6619-y

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  • DOI: https://doi.org/10.1007/s00415-012-6619-y

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