Musculoskeletal Pain Care and Management in Rare Diseases

A special issue of Healthcare (ISSN 2227-9032). This special issue belongs to the section "Pain Management".

Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 20542

Special Issue Editors


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Guest Editor
Department of Orthopaedics and Traumatology, IRCCS Fondazione Policlinico San Matteo, University of Pavia, 27100 Pavia, Italy
Interests: hemophilic arthropathy; orthopedic surgery; joint replacement; motion analysis
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Guest Editor
Department of Translational Medical Sciences, Federico II University, Naples, Italy
Interests: haemophilia; bleeding disorders; thrombotic disorders; atherosclerosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Patients with different rare diseases, both adults and children, suffer from musculoskeletal pain, but several studies revealed that they are “silent sufferers” that accept pain as their fate. Only in rare cases is specific pain therapy applied or long-term pain prevention introduced. This is certainly due to the fact that the interdisciplinary teams treating patients with rare diseases have usually only limited knowledge of pain therapy that is based on research and experience. On the other hand, it is an overall problem of society, since the significance of causal pain therapy was neglected for years. This Special Issue on “Musculoskeletal Pain Care and Managementin Rare Diseases” will cover pathofisiological differences, diagnostic tools and treatment options that require both basic knowledge of general pain therapy and specific knowledge of its application in patients with different rare diseases.

Dr. Gianluigi Pasta
Dr. Matteo Nicola Dario Di Minno
Guest Editors

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Keywords

  • pain
  • management
  • rare diseases
  • hemophilia
  • Ehlers–Danlos syndrome

Published Papers (8 papers)

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Editorial

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3 pages, 208 KiB  
Editorial
Pain Care Management in Rare Diseases
by Emérito Carlos Rodríguez-Merchán, Matteo Nicola Dario Di Minno and Gianluigi Pasta
Healthcare 2023, 11(19), 2628; https://doi.org/10.3390/healthcare11192628 - 27 Sep 2023
Viewed by 778
Abstract
In this Special Issue on “Musculoskeletal Pain Care and Management in Rare Disease”, it is essential to make it clear that, while specialists in rare diseases (RDs) are often very knowledgeable about the management of the specific diseases in which they are experts, [...] Read more.
In this Special Issue on “Musculoskeletal Pain Care and Management in Rare Disease”, it is essential to make it clear that, while specialists in rare diseases (RDs) are often very knowledgeable about the management of the specific diseases in which they are experts, primary care physicians and other physicians who are not experts in a given disease often have very little contact with the patients who experience it [...] Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)

Research

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19 pages, 4856 KiB  
Article
The Effectiveness of Compression Garments for Reducing Pain in Non-Vascular Ehlers-Danlos Syndromes: A Prospective Observational Cohort Study
by Karelle Benistan, Bénédicte Pontier, Catherine Leblond, Ophélie Flageul, Gwenvael Le Guicher, Michel Enjalbert and Fabrice Gillas
Healthcare 2023, 11(13), 1862; https://doi.org/10.3390/healthcare11131862 - 26 Jun 2023
Cited by 1 | Viewed by 1595
Abstract
Patients with Ehlers-Danlos Syndrome (EDS) frequently suffer from severe chronic pain. We carried out an observational cohort study to assess the effectiveness of compression garments (CGs) for reducing this pain. Patients with non-vascular EDS were given custom-made Cerecare® CGs during a visit [...] Read more.
Patients with Ehlers-Danlos Syndrome (EDS) frequently suffer from severe chronic pain. We carried out an observational cohort study to assess the effectiveness of compression garments (CGs) for reducing this pain. Patients with non-vascular EDS were given custom-made Cerecare® CGs during a visit to a specialist clinic (visit V0). They were followed up over 2 years with visits every 6 months (V1–V4). At each visit, pain was assessed for the joints treated with CGs using a visual analogue scale (VAS; 0–100 mm). Additional measures were obtained to assess neuropathic pain (painDETECT questionnaire), proprioception/balance (Berg Balance Scale), and functional independence, amongst others. Data were analyzed for 67 patients with EDS (hypermobile: 91%; classical: 6%; kyphoscoliotic: 3%). For the most painful joint, the mean VAS rating was 71.5 ± 22.8 mm at V0; this decreased to 53.5 ± 25.5 mm at V1 and 45.7 ± 29 mm at V4 (t-tests: p < 0.0001). From V0 to V4, improvements were also seen for pain at the other joints, neuropathic pain, functional independence, proprioception/balance, and the incidence of sprains and dislocations/subluxations, although not all comparisons were statistically significant (p < 0.05 level). These results indicate that CGs may effectively reduce the pain and joint instability in non-vascular EDS patients. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
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11 pages, 1977 KiB  
Article
Forward Bending in Supine Test: Diagnostic Accuracy for Acute Vertebral Fragility Fracture
by Chan-Woo Jung, Jeongik Lee, Dae-Woong Ham, Hyun Kang, Dong-Gune Chang, Youngbae B. Kim, Young-Joon Ahn, Joo Hyun Shim and Kwang-Sup Song
Healthcare 2022, 10(7), 1215; https://doi.org/10.3390/healthcare10071215 - 29 Jun 2022
Cited by 2 | Viewed by 1886
Abstract
Despite its high incidence rate, vertebral fragility fracture (VFF) is frequently underdiagnosed due to the absence of marked symptoms. This study evaluated the diagnostic accuracy of our suggested physical examinations and compared them with that of plain radiographs. Patients over 65 years of [...] Read more.
Despite its high incidence rate, vertebral fragility fracture (VFF) is frequently underdiagnosed due to the absence of marked symptoms. This study evaluated the diagnostic accuracy of our suggested physical examinations and compared them with that of plain radiographs. Patients over 65 years of age with sudden back pain within the preceding 3 weeks were enrolled. Physical examinations in three different positions and a closed-fist percussion test were performed, and the presence of VFF was evaluated through confirmatory radiographic tools. We assessed the diagnostic accuracy of each physical examination and compared them with the interpretation of plain radiographs and examined the patient-reported pain locations based on the VFF level. A total of 179 patients were enrolled. The forward bending in supine (FB-SU) test demonstrated superior diagnostic values (sensitivity: 90.6%, specificity: 71.2%), which outperformed those of plain radiographs (sensitivity: 68.9%, specificity: 71.9%). The location of patient-reported pain was generally close to or lower than the index fracture level. FB-SU showed the highest diagnostic accuracy and was more valuable than plain radiographs in diagnosing acute VFF. FB-SU is a simple and affordable screening test. If positive, physicians should highly suspect VFF even when based on vague evidence of acute fracture provided by plain radiographs. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
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16 pages, 1966 KiB  
Article
Nanostring-Based Identification of the Gene Expression Profile in Trigger Finger Samples
by Ravindra Kolhe, Umar Ghilzai, Ashis K. Mondal, Chetan Pundkar, Pankaj Ahluwalia, Nikhil S. Sahajpal, Jie Chen, Carlos M. Isales, Mark Fulcher and Sadanand Fulzele
Healthcare 2021, 9(11), 1592; https://doi.org/10.3390/healthcare9111592 - 20 Nov 2021
Cited by 3 | Viewed by 2715
Abstract
Trigger finger is a common yet vastly understudied fibroproliferative hand pathology, severely affecting patients’ quality of life. Consistent trauma due to inadequate positioning within the afflicted finger’s tendon/pulley system leads to cellular dysregulation and eventual fibrosis. While the genetic characteristics of the fibrotic [...] Read more.
Trigger finger is a common yet vastly understudied fibroproliferative hand pathology, severely affecting patients’ quality of life. Consistent trauma due to inadequate positioning within the afflicted finger’s tendon/pulley system leads to cellular dysregulation and eventual fibrosis. While the genetic characteristics of the fibrotic tissue in the trigger finger have been studied, the pathways that govern the initiation and propagation of fibrosis are still unknown. The complete gene expression profile of the trigger finger has never been explored. Our study has used the Nanostring nCounter gene expression assay to investigate the molecular signaling involved in trigger finger pathogenesis. We collected samples from patients undergoing trigger finger (n = 4) release surgery and compared the gene expression to carpal tunnel tissue (n = 4). Nanostring nCounter analysis identified 165 genes that were differentially regulated; 145 of these genes were upregulated, whereas 20 genes were downregulated. We found that several collagen genes were significantly upregulated, and a regulatory matrix metalloproteinase (MMP), MMP-3, was downregulated. Bioinformatic analysis revealed that several known signaling pathways were dysregulated, such as the TGF-β1 and Wnt signaling pathways. We also found several novel signaling pathways (e.g., PI3K, MAPK, JAK-STAT, and Notch) differentially regulated in trigger finger. The outcome of our study helps in understanding the molecular signaling pathway involved in the pathogenesis of the trigger finger. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
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10 pages, 4733 KiB  
Article
Is the Pain Just Physical? The Role of Psychological Distress, Quality of Life, and Autistic Traits in Ehlers–Danlos Syndrome, an Internet-Based Survey in Italy
by Matteo Rocchetti, Alessandra Bassotti, Jacopo Corradi, Stefano Damiani, Gianluigi Pasta, Salvatore Annunziata, Viviana Guerrieri, Mario Mosconi, Davide Gentilini and Natascia Brondino
Healthcare 2021, 9(11), 1472; https://doi.org/10.3390/healthcare9111472 - 30 Oct 2021
Cited by 5 | Viewed by 3549
Abstract
Background: Ehlers–Danlos syndromes (EDS) have been associated with psychological distress, comorbid psychiatric disorders, and worsening in quality of life (QoL). Among the neurodevelopmental disorders, autism spectrum disorders (ASD) have shown the highest rates of co-occurrence with EDS. The reasons for these associations are [...] Read more.
Background: Ehlers–Danlos syndromes (EDS) have been associated with psychological distress, comorbid psychiatric disorders, and worsening in quality of life (QoL). Among the neurodevelopmental disorders, autism spectrum disorders (ASD) have shown the highest rates of co-occurrence with EDS. The reasons for these associations are unknown and a possible role of pain in increasing the risk of psychiatric disorders in EDS has been suggested. However, a detailed picture of an Italian EDS sample is still lacking. Methods: We conducted a web-based survey in a third level center for the diagnosis of EDS in northern Italy, to investigate psychological distress, QoL, and the presence of autistic traits. Furthermore, we correlated the psychometric data with some clinical variables. Results: We observed a high rate of psychological distress with 91% of the responders at high risk of common mental disorders, low QoL, and high prevalence of autistic traits in EDS patients. Specifically, patients lacking a specific genetic test, diagnosed as suspects of EDS appeared to be at greater risk and reported worse psychological QoL. Pain was significantly associated with both psychological distress and worse QoL. Conclusions: Our findings support the need of further research and of a multi-disciplinary approach to EDS including psychological and psychiatric liaison. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
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9 pages, 275 KiB  
Article
Musculoskeletal Changes in Hemophilia Patients Subsequent to COVID−19 Lockdown
by Rubén Cuesta-Barriuso, Javier Meroño-Gallut, Raúl Pérez-Llanes and Roberto Ucero-Lozano
Healthcare 2021, 9(6), 702; https://doi.org/10.3390/healthcare9060702 - 9 Jun 2021
Cited by 6 | Viewed by 2687
Abstract
(1) Background. The lockdown period due to the COVID−19 pandemic has drastically decreased levels of physical activity in the population. Hemophilia is characterized by hemarthrosis that leads to chronic, progressive and degenerative joint deterioration. (2) Methods. This observational study recruited 27 patients with [...] Read more.
(1) Background. The lockdown period due to the COVID−19 pandemic has drastically decreased levels of physical activity in the population. Hemophilia is characterized by hemarthrosis that leads to chronic, progressive and degenerative joint deterioration. (2) Methods. This observational study recruited 27 patients with hemophilia and arthropathy. Knee, ankle and elbow joints were assessed. The frequency of clinical hemarthrosis, pain intensity, pressure pain threshold, and joint ROM were evaluated. (3) Results. Following lockdown, a significant deterioration of joint condition, perceived joint pain and range of motion was noted in all joints. There were no changes in the frequency of knee hemarthrosis, while the frequency of ankle hemarthrosis significantly reduced. However, the frequency of elbow hemarthrosis increased. Depending on the degree of hemophilia severity, there were changes in pressure pain threshold in the elbow and in pain intensity and range of motion of the ankle joint. According to the type of treatment, i.e., prophylaxis vs. on-demand treatment, there were differences in the joint condition in elbows and the plantar flexion movement of the ankle. There were no differences in the knee joint based on the severity of the disease, the type of treatment or the development of inhibitors (4). Conclusions. Because of the COVID−19 lockdown, the musculoskeletal status of patients with hemophilia deteriorated. Joint condition, perceived pain, and range of motion were significantly affected. The frequency of clinical hemarthrosis did not increase during this period. A more active therapeutic model could prevent rapid deterioration in patients with hemophilic arthropathy during prolonged sedentary periods. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
11 pages, 4039 KiB  
Article
Generalized Joint Hypermobility and Anxiety in Adolescents and Young Adults, the Impact on Physical and Psychosocial Functioning
by Janneke de Vries, Jeanine Verbunt, Janine Stubbe, Bart Visser, Stephan Ramaekers, Patrick Calders and Raoul Engelbert
Healthcare 2021, 9(5), 525; https://doi.org/10.3390/healthcare9050525 - 29 Apr 2021
Cited by 3 | Viewed by 2534
Abstract
The purpose of this study was to study the association between the presence of generalized joint hypermobility (GJH) and anxiety within a non-clinical high performing group of adolescents and young adults. Second, to study the impact of GJH and/or anxiety on physical and [...] Read more.
The purpose of this study was to study the association between the presence of generalized joint hypermobility (GJH) and anxiety within a non-clinical high performing group of adolescents and young adults. Second, to study the impact of GJH and/or anxiety on physical and psychosocial functioning, 168 adolescents and young adults (mean (SD) age 20 (2.9)) were screened. Joint (hyper)mobility, anxiety, and physical and psychosocial functioning were measured. In 48.8% of all high performing adolescents and young adults, GJH was present, whereas 60% had symptoms of anxiety. Linear models controlled for confounders showed that adolescents and young adults with GJH and anxiety had decreased workload (ß (95%CI) −0.43 (−0.8 to −0.08), p-value 0.02), increased fatigue (ß (95%CI) 12.97 (6.3–19.5), p-value < 0.01), and a higher level of pain catastrophizing (ß (95%CI) 4.5 (0.5–8.6), p-value 0.03). Adolescents and young adults with only anxiety had increased fatigue (ß (95%CI) 11 (4.9–19.5). In adolescents and young adults with GJH alone, no impact on physical and psychosocial functioning was found. Adolescents and young adults with the combination of GJH and anxiety were significantly more impaired, showing decreased physical and psychosocial functioning with decreased workload, increased fatigue, and pain catastrophizing. Presence of GJH alone had no negative impact on physical and psychosocial functioning. This study confirms the association between GJH and anxiety, but especially emphasizes the disabling role of anxiety. Screening for anxiety is relevant in adolescents and young adults with GJH and might influence tailored interventions. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
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Review

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11 pages, 543 KiB  
Review
Pain in Ehlers–Danlos Syndrome: A Non-Diagnostic Disabling Symptom?
by Viviana Guerrieri, Alberto Polizzi, Laura Caliogna, Alice Maria Brancato, Alessandra Bassotti, Camilla Torriani, Eugenio Jannelli, Mario Mosconi, Federico Alberto Grassi and Gianluigi Pasta
Healthcare 2023, 11(7), 936; https://doi.org/10.3390/healthcare11070936 - 24 Mar 2023
Cited by 3 | Viewed by 3041
Abstract
Background: Ehlers–Danlos syndrome (EDS) is a phenotypically and genetically heterogeneous group of connective tissue disorders. Currently, diagnosis of EDS is based on a series of clinical and genetic tools. On the other hand, the hypermobile form has not yet been characterized from a [...] Read more.
Background: Ehlers–Danlos syndrome (EDS) is a phenotypically and genetically heterogeneous group of connective tissue disorders. Currently, diagnosis of EDS is based on a series of clinical and genetic tools. On the other hand, the hypermobile form has not yet been characterized from a genetic point of view: it is considered a part of a continuous spectrum of phenotypes, ranging from isolated non syndromic joint hypermobility, through to the recently defined hypermobility spectrum disorders (HSD). The aim of this study is to characterize the pain symptom that is not considered among the diagnostic criteria but is relevant to what concerns the quality of life of patients with EDS. (2) Methods: A review of the literature was performed on two medical electronic databases (PubMed and Embase) on 20 December 2022. Study selection and data extraction were achieved independently by two authors and the following inclusion criteria were determined a priori: published in the English language and published between 2000 and 2022. (3) Results: There were fifty eligible studies obtained at the end of the search and screen process. Pain is one of the most common symptoms found in Ehlers–Danlos (ED) patients. Different causes seem to be recognized in different phases of the syndrome. (4) Conclusions: Pain is a nonspecific symptom and cannot be considered among the diagnostic criteria, but it is a negative predictive factor in the quality of life of patients with EDS. Therefore, proper evaluation and treatment is mandatory. Full article
(This article belongs to the Special Issue Musculoskeletal Pain Care and Management in Rare Diseases)
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