Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease
Abstract 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 disabli...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-11-01
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| Series: | Journal of Orthopaedic Surgery and Research |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13018-019-1452-y |
| _version_ | 1817989509957025792 |
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| author | Mercedes Roca-Espiau Marcio Andrade-Campos Jorge J. Cebolla Laura López de Frutos Blanca Medrano-Engay Maria-Pilar López-Royo Pilar Giraldo |
| author_facet | Mercedes Roca-Espiau Marcio Andrade-Campos Jorge J. Cebolla Laura López de Frutos Blanca Medrano-Engay Maria-Pilar López-Royo Pilar Giraldo |
| author_sort | Mercedes Roca-Espiau |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-14T00:47:50Z |
| format | Article |
| id | doaj.art-5cb24522df0d45d8910ae3351f357b65 |
| institution | Directory Open Access Journal |
| issn | 1749-799X |
| language | English |
| last_indexed | 2024-04-14T00:47:50Z |
| publishDate | 2019-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Orthopaedic Surgery and Research |
| spelling | doaj.art-5cb24522df0d45d8910ae3351f357b652022-12-22T02:21:55ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2019-11-011411810.1186/s13018-019-1452-yMuscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s diseaseMercedes Roca-Espiau0Marcio Andrade-Campos1Jorge J. Cebolla2Laura López de Frutos3Blanca Medrano-Engay4Maria-Pilar López-Royo5Pilar Giraldo6Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)Grupo de Investigación en Enfermedad de Gaucher (GIIS-012), Unidad de Investigación Traslacional, Fundación Instituto de Investigación Sanitaria AragónFundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)Abstract 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.http://link.springer.com/article/10.1186/s13018-019-1452-yGaucher diseaseFatigueStrain-elastographyAchilles tendon stiffnessQoL |
| spellingShingle | Mercedes Roca-Espiau Marcio Andrade-Campos Jorge J. Cebolla Laura López de Frutos Blanca Medrano-Engay Maria-Pilar López-Royo Pilar Giraldo Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease Journal of Orthopaedic Surgery and Research Gaucher disease Fatigue Strain-elastography Achilles tendon stiffness QoL |
| title | 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_short | 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 |
| topic | Gaucher disease Fatigue Strain-elastography Achilles tendon stiffness QoL |
| url | http://link.springer.com/article/10.1186/s13018-019-1452-y |
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