Abstract
BackgroundFabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (PREP).MethodsIn this case–control study we prospectively studied 76 consecutive Fabry patients for electrical small fiber conduction in correlation with small fiber function and morphology. Data were compared with healthy controls using non-parametric statistical tests. All patients underwent neurological examination and were investigated with pain and depression questionnaires. Small fiber function (quantitative sensory testing, QST), morphology (skin punch biopsy), and electrical conduction (PREP) were assessed and correlated. Patients were stratified for gender and disease severity as reflected by renal function.ResultsAll Fabry patients (31 men, 45 women) had small fiber neuropathy. Men with Fabry disease showed impaired cold (p < 0.01) and warm perception (p < 0.05), while women did not differ from controls. Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function. When investigating A-delta fiber conduction with PREP, men but not women with Fabry disease had lower amplitudes upon stimulation at face (p < 0.01), hands (p < 0.05), and feet (p < 0.01) compared to controls. PREP amplitudes further decreased with advance in disease severity. PREP amplitudes and warm (p < 0.05) and cold detection thresholds (p < 0.01) at the feet correlated positively in male patients.ConclusionSmall fiber conduction is impaired in men with Fabry disease and worsens with advanced disease severity. PREP are well-suited to measure A-delta fiber conduction.
Highlights
Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy
We prospectively investigated a large cohort of consecutive Fabry patients with small fiber neuropathy using electrical stimulation of A-delta fibers (PREP), and compared the findings with complementary methods for small fiber function and morphology, namely quantitative sensory testing (QST) and histological assessment of skin innervation
We show that A-delta fiber conduction can be assessed using pain-related evoked potentials (PREP), that A-delta fiber conduction is impaired mainly in male Fabry patients with advanced disease, and that pathological PREP parameters correlate with reduced thermal perception
Summary
Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. FD mostly affects the peripheral nervous system in. A-delta and C-fiber function can be assessed by neurological examination and quantitative sensory testing (QST). Besides laser and heat stimuli, electrical current using special concentric electrodes [7] is suitable to stimulate A-delta fibers. This type of evoked potentials, which has been named “pain-related evoked potentials” (PREP), is an applicable new tool for objective small fiber diagnostics [8]
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