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

Roca-Espiau, Mercedes; Andrade‐Campos, Marcio; Cebolla, Jorge J.; Frutos, Laura López de; Medrano-Engay, Blanca; López-Royo, M.P.; Giraldo, Pilar

doi:10.1186/s13018-019-1452-y

Cited by 4 publications

(3 citation statements)

References 22 publications

(33 reference statements)

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“…Fatigue is certainly one of the most difficult symptoms to analyze, particularly in patients with GD1 [26], also due to the absence of a validated specific tool. Fatigue in GD1 is not exclusively explained by hematological alterations, such as anemia, and other causes should be explored [27]. Overall, laboratory parameters did not change over time, except hemoglobin concentration that improved, differently from what was reported by Chi and Amato [18].…”

Section: Discussionmentioning

confidence: 71%

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

Serratrice¹,

Stirnemann

Berrahal

et al. 2020

JCM

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Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sectional retrospective study was to compare the clinical, radiological, and laboratory characteristics of patients with less severe GD1 at diagnosis and at the last evaluation to identify features that might lead to potential complications. Non-splenectomized and never-treated patients (19 women and 17 men) were identified in the French Gaucher Disease Registry (FGDR). Their median age was 36.6 years (2.4–75.1), and their median follow-up was 7.8 years (0.4–32.4). Moreover, 38.7% were heterozygous for the GBA1 N370S variant, and 22.6% for the GBA1 L444P variant. From diagnosis to the last evaluation, GD1 did not worsen in 75% of these patients. Some parameters improved (fatigue and hemoglobin concentration), whereas platelet count and chitotriosidase level remained stable. In one patient (2.7%), Lewy body dementia was diagnosed at 46 years of age. Bone lesion onset was late and usually a single event in most patients. This analysis highlights the genotypic heterogeneity of this subgroup, in which disease could remain stable and even improve spontaneously. It also draws attention to the possible risk of Lewy body disease and late onset of bone complications, even if isolated, to be confirmed in larger series and with longer follow-up.

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Section: Discussionmentioning

confidence: 71%

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

Serratrice¹,

Stirnemann

Berrahal

et al. 2020

JCM

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“…Based on these features, sonoelastographic examination of the Achilles tendon has been performed in many diseases in the literature and the relationship between the disease and the measurements has been evaluated. [12][13][14][15][16][17] It has been concluded that in addition to rheumatological diseases, there are subclinical changes in sonoelastography in the Achilles tendon in metabolic and structural musculoskeletal system problems, which can be useful in predicting the prognosis of diseases.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic value of Achilles tendon shear wave elastography in patients with ankylosing spondylitis: A case–control study

Atik,

Gul

2024

J of Clinical Ultrasound

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ObjectivesAnkylosing spondylitis (AS) can cause peripheral arthritis, tendinitis, enthesitis, and axial skeletal involvement. This study aims to determine early tendon damage by shear wave elastography (SWE) for the Achilles tendon in AS patients.Methods48 AS patients and 48 asymptomatic individuals were included in the study. Participants were systematically examined with B‐mode, power Doppler, and SWE using a high‐resolution linear 6–15 MHz probe. Bilateral Achilles tendon stiffness, thickness, and vascularity were evaluated. Measurements were taken from the middle third of the Achilles tendon in the sagittal plane. Difference between the two groups was evaluated with statistical methods. Receiver operating characteristic analysis was performed to test the diagnostic performance of Achilles tendon stiffness. Additionally, the Spearman correlation test examined the relationship between Achilles tendon stiffness and disease duration.ResultsThe difference between the two groups regarding Achilles tendon stiffness was statistically significant (p < 0.05). It was observed that Achilles tendon stiffness decreased in the patient group compared with the control group. The diagnostic value of Achilles tendon stiffness measured by SWE was found to be high. A negative correlation was detected between disease duration and tendon stiffness (p < 0.05).ConclusionIn patients diagnosed with AS, deterioration in the Achilles tendon structure was observed, and a significant decrease in tendon stiffness compared with the healthy population. It has been determined that these changes in the Achilles tendon are related to the duration of the disease.

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“…These studies focused on evaluating the QoL of patients with GD and analyzing the influencing factors associated with the patients' QoL, both positive and negative. GD severely affects several major QoL dimensions [7,13,19,20,[30][31][32][33][34][35]. Patients with GD scored significantly worse than did the age-and sex-adjusted normal population on five of the eight SF-36 subscales (p < 0.05) [20].…”

Section: Cross-sectional Studies and Qualitative Researchmentioning

confidence: 99%

Patient-reported outcomes in Gaucher’s disease: a systematic review

Feng,

Gao,

Shi

et al. 2023

Orphanet J Rare Dis

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Background Gaucher’s disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating in a marked deterioration of patients’ quality of life (QoL). Patient-reported outcomes (PROs) offer valuable insights into the impact of GD on patients’ QoL and symptoms. This systematic review aimed to identify and analyze PROs and outcome measures in GD patients. Methods We systematically searched PubMed, Web of Science Core Collections, EMBASE, SCOPUS, Cochrane Library, PsycINFO, Wan Fang Data, China National Knowledge Infrastructure (CNKI), and the Chinese Biomedical Literature Database (CBM). The methodological quality of the included studies was assessed using a mixed methods assessment tool. Results A total of 33 studies were identified, encompassing 24 distinct patient-reported outcome instruments, with the most frequently employed instrument being the SF-36. The study designs included eighteen cross-sectional studies, seven pre- and post-intervention investigations, three randomized controlled trials, two cohort studies, two qualitative inquiries, and one validation study. These studies explored diverse domains such as the QoL and cardinal symptoms (e.g., fatigue, pain, bleeding, cognition, social relationships, and psychological functioning) in patients with GD. Furthermore, significant attention was directed towards the appraisal of the therapeutic benefits of various interventions in patients with GD. A novel GD-specific instrument has also been developed, which has two applied versions: a 24-item variant for routine clinical monitoring and a 17-item form for use in clinical trials. Conclusion PROs have garnered increased attention and concern in the realm of GD. Despite this progress, it is noteworthy that the instruments used to measure PROs in GD are still predominantly generic instruments. While researchers have endeavored to develop and validate a disease-specific instrument, currently the use of this instrument is limited. Owing to several challenges, including the small number of patients, heterogeneity of the disease, and cross-regional discrepancies in study findings, GD poses substantial difficulties in the measurement of QoL and development of instruments. Consequently, patients with GD require more dependable measurement instruments that accurately reflect their QoL, efficacy of treatment, and facilitate healthcare decision-making.

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

Cited by 4 publications

References 22 publications

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

Diagnostic value of Achilles tendon shear wave elastography in patients with ankylosing spondylitis: A case–control study

Patient-reported outcomes in Gaucher’s disease: a systematic review

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