Roca-Espiau Mercedes, Andrade-Campos Marcio, Cebolla Jorge J, López de Frutos Laura, Medrano-Engay Blanca, López-Royo Maria-Pilar, Giraldo Pilar
Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, Spain.
Radiologic Centre CEMEDI, Zaragoza, Spain.
J Orthop Surg Res. 2019 Nov 21;14(1):383. doi: 10.1186/s13018-019-1452-y.
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.
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.
descriptive and comparative test.
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.
Intratendinous alteration in strain-elastography is an independent variable in GD patients with persistent fatigue.
慢性疲劳（CFg）是戈谢病（GD）诊断时的常见症状（79%），且在多年治疗后仍有四分之一的患者存在该症状。超过70%的患者存在骨骼异常，约11%的患者存在周围神经病变，这些都会导致致残和使人衰弱的并发症。我们的假设是，其他因素如肌腱无力可能会影响CFg的发生发展。
我们通过应变弹性成像（S-ELA）评估了肌腱单位的纤维结构和弹性，并分析了它们对CFg的影响。对25例1型和2例3型GD患者的跟腱进行了S-ELA研究，所有患者均有疲劳症状，且平均接受酶替代治疗13年；同时，通过MRI评估骨髓负荷，并进行跟骨超声骨密度测量。还进行了血细胞计数、血浆生物标志物、GBA1基因分型和SF36生活质量量表（QoL）评估。
描述性和比较性检验。
所有患者的跟腱结构均正常。17/27（62.9%）的患者发现有2-3级异常僵硬；11/27（40.7%）的患者为双侧改变。S-ELA结果与其他变量之间无相关性；然而，发现肌腱硬度程度与QoL量表低分之间存在显著相关性（p = 0.0035）。S-ELA是一种敏感、无痛、快速且低成本的方法，可检测可能导致GD患者CFg的肌腱亚临床功能障碍。亚临床肌腱改变的识别将是一个警示信号，关注骨骼并发症发生的风险。
应变弹性成像中的肌腱内改变是持续性疲劳的GD患者的一个独立变量。
