Small fiber involvement is independent from clinical pain in late-onset Pompe disease.

ABSTRACT:

Background

Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to a small nerve fiber involvement in LOPD patients.

Methods

In 35 patients with LOPD under enzyme replacement therapy without clinical signs of polyneuropathy (19 females; 51 ± 15 years), pain characteristics as well as depressive and anxiety symptoms were assessed using the PainDetect questionnaire (PDQ) and the hospital anxiety and depression scale (HADS), respectively. Distal skin biopsies were analysed for intraepidermal nerve fiber density (IENFD) and compared to age- and gender-matched reference data. Skin biopsies from 20 healthy subjects served as contr

SUBMITTER: Enax-Krumova EK 

PROVIDER: S-EPMC9044713 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature