Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease

Background: Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy. Bone abnormalities are present in over 70% and peripheral neuropathy in about 11% of the patients, which contributes to the disabling and d...

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Autores: Roca-Espiau, Mercedes, Andrade-Campos, Marcio, Cebolla, Jorge J., López de Frutos, Laura, Medrano-Engay, Blanca, López-Royo, Maria-Pilar, Giraldo, Pilar
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/46743
Acesso em linha:http://hdl.handle.net/10230/46743
http://dx.doi.org/10.1186/s13018-019-1452-y
Access Level:acceso abierto
Palavra-chave:Achilles tendon stiffness
Fatigue
Gaucher disease
QoL
Strain-elastography
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spelling Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's diseaseRoca-Espiau, MercedesAndrade-Campos, MarcioCebolla, Jorge J.López de Frutos, LauraMedrano-Engay, BlancaLópez-Royo, Maria-PilarGiraldo, PilarAchilles tendon stiffnessFatigueGaucher diseaseQoLStrain-elastographyBackground: Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy. Bone abnormalities are present in over 70% and peripheral neuropathy in about 11% of the patients, which contributes to the disabling and debilitating complications. Our hypothesis is that other factors such as muscle-tendinous weakness could have influence in the development of CFg. Methods: We have evaluated the fiber structure and elasticity of muscle-tendinous unit by strain-elastography (S-ELA) and analyzed their influence in the CFg. S-ELA study was performed in Achilles tendon in 25 type 1 and two type 3 GD patients, all of them with fatigue and were on enzymatic replacement therapy for mean 13 years; simultaneously, bone marrow burden by MRI and calcaneus ultrasound densitometry were evaluated. Blood cell counts, plasma biomarkers, GBA1 genotyping, and SF36 quality of life scale (QoL) were also performed. Statistical analysis: descriptive and comparative test. Results: All patients showed a normal Achilles tendinous structure. Abnormal stiff grade 2-3 was found in 17/27 (62.9%); in 11/27 (40.7%) of patients, the alteration was bilateral. There were no correlations between the S-ELA results to other variables; nevertheless, a significant correlation between the degree of tendon hardness and the low score on the QoL scales (p = 0.0035) was found. The S-ELA is a sensitive painless, fast, and low cost method to detect muscle-tendinous subclinical dysfunction that could contribute to CFg in GD. The identification of subclinical tendon alteration would be a sign of alarm, focused on the risk of development of bone complications. Conclusion: Intratendinous alteration in strain-elastography is an independent variable in GD patients with persistent fatigue.BioMed Central202120212019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/46743http://dx.doi.org/10.1186/s13018-019-1452-yreponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésCopyright © The Author(s). 2019. Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/467432026-05-29T05:05:01Z
dc.title.none.fl_str_mv Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
title Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
spellingShingle Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
Roca-Espiau, Mercedes
Achilles tendon stiffness
Fatigue
Gaucher disease
QoL
Strain-elastography
title_short Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
title_full Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
title_fullStr Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
title_full_unstemmed Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
title_sort Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease
dc.creator.none.fl_str_mv Roca-Espiau, Mercedes
Andrade-Campos, Marcio
Cebolla, Jorge J.
López de Frutos, Laura
Medrano-Engay, Blanca
López-Royo, Maria-Pilar
Giraldo, Pilar
author Roca-Espiau, Mercedes
author_facet Roca-Espiau, Mercedes
Andrade-Campos, Marcio
Cebolla, Jorge J.
López de Frutos, Laura
Medrano-Engay, Blanca
López-Royo, Maria-Pilar
Giraldo, Pilar
author_role author
author2 Andrade-Campos, Marcio
Cebolla, Jorge J.
López de Frutos, Laura
Medrano-Engay, Blanca
López-Royo, Maria-Pilar
Giraldo, Pilar
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Achilles tendon stiffness
Fatigue
Gaucher disease
QoL
Strain-elastography
topic Achilles tendon stiffness
Fatigue
Gaucher disease
QoL
Strain-elastography
description Background: Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy. Bone abnormalities are present in over 70% and peripheral neuropathy in about 11% of the patients, which contributes to the disabling and debilitating complications. Our hypothesis is that other factors such as muscle-tendinous weakness could have influence in the development of CFg. Methods: We have evaluated the fiber structure and elasticity of muscle-tendinous unit by strain-elastography (S-ELA) and analyzed their influence in the CFg. S-ELA study was performed in Achilles tendon in 25 type 1 and two type 3 GD patients, all of them with fatigue and were on enzymatic replacement therapy for mean 13 years; simultaneously, bone marrow burden by MRI and calcaneus ultrasound densitometry were evaluated. Blood cell counts, plasma biomarkers, GBA1 genotyping, and SF36 quality of life scale (QoL) were also performed. Statistical analysis: descriptive and comparative test. Results: All patients showed a normal Achilles tendinous structure. Abnormal stiff grade 2-3 was found in 17/27 (62.9%); in 11/27 (40.7%) of patients, the alteration was bilateral. There were no correlations between the S-ELA results to other variables; nevertheless, a significant correlation between the degree of tendon hardness and the low score on the QoL scales (p = 0.0035) was found. The S-ELA is a sensitive painless, fast, and low cost method to detect muscle-tendinous subclinical dysfunction that could contribute to CFg in GD. The identification of subclinical tendon alteration would be a sign of alarm, focused on the risk of development of bone complications. Conclusion: Intratendinous alteration in strain-elastography is an independent variable in GD patients with persistent fatigue.
publishDate 2019
dc.date.none.fl_str_mv 2019
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/46743
http://dx.doi.org/10.1186/s13018-019-1452-y
url http://hdl.handle.net/10230/46743
http://dx.doi.org/10.1186/s13018-019-1452-y
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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