Purpose: Fabry disease belongs to lysosomal storage disorders and can be successfully treated today. On the contrary, the correct diagnostic classification of its symptoms can be challenging and most patients suffer from pain for years, until they are diagnosed correctly. The aim of this project was to characterize patients with unclassified extremity pain and to present a simple algorithm for a retrospective stratification approach.
Patients and methods: The FabryScan includes a bedside-test and a questionnaire, consisting of 10 symptom-orientated and anamnestic questions. For the stratification of patients according to the likelihood for Fabry disease two different approaches were conducted. First, a prospective subgrouping based on the previously invented FabryScan evaluation system was conducted. The second retrospective approach consisted of a factor analysis and a subsequent two-way cluster analysis. Further on, 4 patients diagnosed with Fabry disease were stratified according to both approaches.
Results: In total, 183 completed datasets were included in the statistical analysis. The first approach prospectively classified patients into 3 subgroups (n=40 [likely], n=96 [possible], n=47 [unlikely]) according to the FabryScan evaluation system. The second approach retrospectively stratified patients into 3 subgroups (n=47 [cluster 1], n=95 [cluster 2], n=41 [cluster 3]). Finally, the Fabry patients were sorted to the subgroups, indicative for the highest possibility of Fabry disease in both stratification approaches A and B.
Conclusion: Both stratification approaches sorted patients with confirmed Fabry disease to the subgroups, indicative for the highest likelihood for Fabry. These results indicate validity of the initially selected FabryScan outcome parameters.
Keywords: Fabry disease; classification; extremity pain; neuropathic pain.