Abstract
BackgroundChronic 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.MethodsWe 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.ResultsAll 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.ConclusionIntratendinous alteration in strain-elastography is an independent variable in GD patients with persistent fatigue.
Highlights
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
The aim of this study is to evaluate the myotendinous unit in a group of adult GD patients with CFg, by a simple, non-invasive new technology based on strain-elastography (S-ELA) technique which allows the assessment of the biomechanical and structural properties of tissues by measuring their stiffness
Chronic fatigue is the most prevalent symptom in patients with Gaucher disease; it appears at any age and usually the patients are not aware of the symptom/sensation, until they perceive the improvement after starting a specific treatment for the disease
Summary
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. Our hypothesis is that other factors such as muscle-tendinous weakness could have influence in the development of CFg. Chronic fatigue (CFg) is the most frequent symptom of patients suffering from Gaucher disease (GD) (79% [1]); the use of enzymatic replacement therapy (ERT) has changed the natural history of the disease; its long-term use leads to an improvement of visceral, hematological, Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, Spain. 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
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