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J Neurol (2012) 259:23932400 DOI 10.1007/s00415-012-6619-y
ORIGINAL COMMUNICATION
FabryScan: a screening tool for early detection of Fabry disease
Kathrin Arning Dennis Naleschinski Rainer Maag Marieke Biegstraaten
Peter Kropp Jrgen Lorenzen Carla E. M. Hollak Ivo N. van Schaik
Pontus Harten Rainald A. Zeuner Andreas Binder Ralf Baron
Received: 8 March 2012 / Revised: 4 June 2012 / Accepted: 11 July 2012 / Published online: 10 August 2012 Springer-Verlag 2012
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 ber 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 ber 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). Identication of the most discriminant combinations of items for Fabry disease and their calculation of sensitivity and specicity were based on multivariate analyses. We retained only 10 questions and three bedside tests for the nal 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 identied patients (76 %) with a sensitivity of 88 % and a specicity of 87 %. The FabryScan is a combination of a brief and simple questionnaire with three simple bedside tests with good discriminative value for the identication of Fabry patients in patients with chronic extremity pain.
Keywords Metabolic disease (inherited) Neuropathic
pain Peripheral neuropathy Screening tool Morbus
Fabry
Introduction
Fabry disease is an X-linked lysosomal storage disorder caused by galactosidase A deciency [13] The estimated prevalence is 1 in 40,000 live births [4], although recent calculations based on screening studies estimate a large number of unrecognized patients [5]....