Small fiber involvement is independent from clinical pain in late-onset Pompe disease.
Elena K Enax-KrumovaIris DahlhausJonas GörlachKristl G ClaeysFederica MontagneseLlka SchneiderDietrich SturmTanja FangerauHannah SchlierbachAngela RothJulia V WanschitzWolfgang N LöscherAnne-Katrin GüttschesStefan VielhaberRebecca HasseliLea ZunkHeidrun H KrämerAndreas HahnBenedikt SchoserAngela RosenbohmAnne SchänzerPublished in: Orphanet journal of rare diseases (2022)
Pain is a frequent symptom in treated LOPD on ERT, though a screening questionnaire seldom indicated neuropathic pain. The high frequency of small nerve fiber pathology in a treated LOPD cohort was found regardless of the presence of pain or comorbid risk factors for SFN and needs further exploration in terms of clinical context, exact mechanisms and when developing novel therapeutic options for LOPD.