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Guidelines on diagnostics and therapy of Fabry disease have already been compiled in a number of European countries and are being prepared in others. A synthesis of these national guidelines seems to be a sensible option for preparing a prospective European consensus document in the not too distant future. While clinical diagnostics is extensively discussed in the various guidelines, at present there is no consensus on laboratory diagnostic tests for Fabry disease either at national level or at the level of the European Union. There is a widespread variation concerning the diagnostic value of the various methods, such as enzyme activity testing, gene analysis, biopsies, Gb3 measurement etc. and on what should be used and how they compare, if indeed they do. This results in lack of agreement regarding the clinical pathology of the condition.

Toward a consensus in the laboratory diagnostics of Fabry disease ‐ recommendations of a European expert group