35 LOPD patients under enzyme replacement therapy were assessed and skin biopsies were analysed for intraepidermal nerve fiber density and compared to age- and gender-matched reference data.
The study findings were very interesting. Pain is a frequent symptom in treated LOPD on ERT, though a screening questionnaire seldom indicated neuropathic pain. Reduced small nerve fibre density was found in a large number of LOPD patients under ERT. Thus the results indicate that the peripheral nervous system may represent another system affected in Pompe disease, which is in line with few previous reports on neuropathy in Pompe disease. Future studies may give further information both on the underlying mechanisms of small nerve fibre degeneration and pain generation and on the disease’s progress, thus potentially contributing to personalised treatment.
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