Evidence map›Paper›PMID 35477515›Full record

ArticleOrphanet journal of rare diseases2022

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

Elena K Enax-Krumova, Iris Dahlhaus, Jonas Görlach, Kristl G Claeys, Federica Montagnese, Llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth and 11 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. [Research progress of nervous system damage in Pompe disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 9 institutions in 3 countries.

Elena K Enax-KrumovaDepartment of Neurology, BG University Hospital Bergmannsheil, Ruhr-University, Bochum, Germany.
Iris DahlhausInstitute of Medical Informatics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Jonas GörlachInstitute of Neuropathology, Justus Liebig University Giessen, Arndstr.16, 35392, Giessen, Germany.
Kristl G ClaeysDepartment of Neurology, University Hospitals Leuven, Leuven, Belgium.
Federica MontagneseFriedrich-Baur-Institute, Department of Neurology, LMU University Munich, Munich, Germany.
Llka SchneiderDepartment of Neurology, Martin Luther University Halle-Wittenberg, Halle, Germany.
Dietrich SturmDepartment of Neurology, BG University Hospital Bergmannsheil, Ruhr-University, Bochum, Germany.
Tanja FangerauDepartment of Neurology, University of Ulm, Ulm, Germany.
Hannah SchlierbachInstitute of Neuropathology, Justus Liebig University Giessen, Arndstr.16, 35392, Giessen, Germany.
Angela RothInstitute of Neuropathology, Justus Liebig University Giessen, Arndstr.16, 35392, Giessen, Germany.
Julia V WanschitzDepartment of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Wolfgang N LöscherDepartment of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Anne-Katrin GüttschesDepartment of Neurology, BG University Hospital Bergmannsheil, Ruhr-University, Bochum, Germany.
Stefan VielhaberDepartment of Neurology, Otto-Von-Guericke University, Magdeburg, Germany.
Rebecca HasseliDepartment of Rheumtaology and Clinical Immunology, Campus Kerkhoff, Justus-Liebig University, Giessen, Germany.
Lea ZunkInstitute of Neuropathology, Justus Liebig University Giessen, Arndstr.16, 35392, Giessen, Germany.
Heidrun H KrämerDepartment of Neurology, Justus Liebig University, Giessen, Germany.
Andreas HahnDepartment of Child Neurology, Justus Liebig University, Giessen, Germany.
Benedikt SchoserFriedrich-Baur-Institute, Department of Neurology, LMU University Munich, Munich, Germany.
Angela RosenbohmDepartment of Neurology, University of Ulm, Ulm, Germany.
Anne SchänzerInstitute of Neuropathology, Justus Liebig University Giessen, Arndstr.16, 35392, Giessen, Germany. anne.schaenzer@patho.med.uni-giessen.de.ORCID 0000-0002-2014-2028
Justus-Liebig-Universität Gießen · DEBG University Hospital Bergmannsheil Bochum · DEFriedrich Baur Stiftung · DEInnsbruck Medical University · ATUniversität Ulm · DECharité - Universitätsmedizin Berlin · DEKlinikum St. Georg · DEKU Leuven · BEOtto-von-Guericke-Universität Magdeburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPain 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.

methodsIn 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 controls to assure validity of the morphometric analysis.

resultsPain was reported in 69% of the patients with an average intensity of 4.1 ± 1.1 on the numeric rating scale (NRS; anchors: 0-10). According to PDQ, neuropathic pain was likely in one patient, possible in 29%, and unlikely in 67%. Relevant depression and anxiety symptoms occurred in 31% and 23%, respectively, and correlated with pain intensity. Distal IENFD (3.98 ± 1.95 fibers/mm) was reduced in 57% of the patients. The degree of IENFD reduction did not correlate with the durations of symptoms to ERT or duration of ERT to biopsy.

conclusionsPain 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.

Indexed as

Glycogen Storage Disease Type IINeuralgiaEnzyme Replacement TherapyFemaleHumansMalePain MeasurementQuality of LifeIntraepidermal nerve fiber densityLate onset Pompe diseasePainSkin biopsySmall nerve fiber

Identifiers

PMID35477515
PMCPMC9044713
OpenAlexW4224943733

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.