Lies Rombaut

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type

Purpose. To investigate the musculoskeletal complaints, physical activity (PA) and health-related quality of life (HRQoL) in patients with the Ehlers–Danlos syndrome hypermobility type (EDS-HT). Methods. Thirty-two female EDS-HT patients as defined by the Villefranche criteria and 32 gender- and age-matched healthy control subjects participated in the study. Data about musculoskeletal complaints were collected from a specific form developed for the study. Daily PA and HRQoL were evaluated by the Baecke questionnaire and the RAND 36-Item Health Survey (distributed by RAND), respectively. Results. A significant presence of joint pain, joint dislocations, muscle cramps, tendinitis, fatigue and headache were revealed in the EDS-HT patient group. Joint pain was reported as the most frequent and most severe symptom. The habitual PA level was diminished in the patient group. Specifically, EDS-HT subjects had significantly lower sport participation, but a comparable leisure time excluding sports compared to the healthy control subjects. All eight HRQoL dimensions of the RAND-36 and both physical and emotional summary scores were significantly impaired in EDS-HT. Conclusions. EDS-HT is characterised by various severe musculoskeletal complaints and has a detrimental effect on the habitual level of PA and HRQoL, in both physical and psychosocial dimension. An appropriate treatment and management in healthcare is needed.

Is Hip Muscle Weakness a Predisposing Factor for Patellofemoral Pain in Female Novice Runners? A Prospective Study

Background: Hip muscle weakness has been proposed to contribute to patellofemoral malalignment and the development of the patellofemoral dysfunction syndrome (PFDS). However, from the retrospective studies that have addressed this issue, it is still unclear if hip muscle weakness is a cause or a consequence of PFDS. Purpose: This study was undertaken to investigate if hip muscle weakness is a predisposing factor for the development of PFDS. Study Design: Cohort study (prognosis); Level of evidence, 2. Methods: Before the start of a 10-week “start to run” program, the isometric strength of the hip flexor, extensor, abductor, adductor, and external and internal rotator muscles was measured in 77 healthy female novice runners. During the 10-week training period, patellofemoral pain was diagnosed and registered by an orthopaedic surgeon. Results: Statistical analysis revealed that there was no significant difference in strength of any of the assessed hip muscle groups between the runners who did and did not develop PFDS. Logistic regression analysis did not identify a deviation in strength of any of the assessed hip muscle groups as a risk factor for PFDS. Conclusion: The findings of this study suggest that isometric hip muscle strength might not be a predisposing factor for the development of PFDS.

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome

OBJECTIVES Many non-musculoskeletal complaints in EDS-HT may be related to dysautonomia. This study therefore aims to investigate whether dysautonomia is present and to explore the underlying mechanisms. METHODS A total of 39 females with EDS-HT and 35 age-matched controls underwent autonomic function testing. Resting autonomic tone was assessed using heart rate variability (frequency domain) and baroreflex sensitivity analysis (cross correlation). Autonomic reactivity was assessed using the Autonomic Reflex Screen test battery. Factors suspected to contribute to dysautonomia, e.g., neuropathy, medication use, decreased physical activity, depression, pain-induced sympathetic arousal, and connective tissue laxity, were quantified using validated questionnaires, the Beighton score, and measurement of skin extensibility. RESULTS The EDS-HT group showed autonomic deregulation with increased sympathetic activity at rest and reduced sympathetic reactivity to stimuli. Increased resting activity was indicated by a higher LF/HF ratio compared to controls (1.7 ± 1.23 vs 0.9 ± 0.75, p = 0.002); decreased reactivity by a greater BP fall during valsalva (-19 ± 12 vs -8 ± 10, p < 0.001), and a smaller initial diastolic BP increase during tilt (7% vs 14%, p = 0.032). Orthostatic intolerance was significantly more prevalent in EDS-HT than controls (74% vs 34%) and was most frequently expressed as postural orthostatic tachycardia. Lowered QSART responses suggest that sympathetic neurogenic dysfunction is common in patients (p < 0.013), which may explain the dysautonomia in EDS-HT. Further, connective tissue laxity and vasoactive medication use were identified as important factors in aggravating dysautonomia (p < 0.035). CONCLUSION Dysautonomia consisting of cardiovascular and sudomotor dysfunction is present in EDS-HT. Neuropathy, connective tissue laxity, and vasoactive medication probably play a role in its development.

Joint position sense and vibratory perception sense in patients with Ehlers–Danlos syndrome type III (hypermobility type)

Neurophysiological deficits could make patients with Ehlers–Danlos syndrome (EDS) type III (hypermobility type) more vulnerable to musculoskeletal problems, particularly to joint instability. The purpose of this study was to investigate whether joint position sense (JPS) and vibratory perception sense (VPS) in EDS type III patients in the knee and shoulder joints are impaired. Thirty-two female EDS type III patients as defined by the Villefranche criteria and 32 individually gender- and age-matched healthy control subjects were included in the study. Range of motion was determined using a goniometer, passive and active JPS were assessed with an isokinetic dynamometer system, and the VPS was measured by a biothesiometer. Daily physical activity was evaluated by the Baecke questionnaire. The EDS type III group showed significantly larger ranges of movement (P < 0.05) and lower levels of sport physical activity (SPA) compared to the control group (P = 0.023). Considering SPA as covariate, the EDS type III group demonstrated a significant impairment in knee joint reposition compared to the control group (P = 0.018). No significant differences were found for shoulder JPS. The VPS was not significantly different in the EDS type III group compared to the control group. In addition, no significant correlation was found between JPS and VPS, neither at the knee nor at the shoulder joint. This is the first study examining proprioception deficits in EDS type III patients as defined by the Villefranche criteria. Further research on the neurophysiological dysfunctions and mechanisms in this pathologic entity is needed.

Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome

To investigate balance, gait, falls, and fear of falling in patients with the hypermobility type of Ehlers‐Danlos syndrome (EDS‐HT).

Medication, Surgery, and Physiotherapy Among Patients With the Hypermobility Type of Ehlers-Danlos Syndrome

OBJECTIVES To describe medication use, surgery, and physiotherapy, and to examine the effect of these treatment modalities on functional impairment and amount of complaints among patients with the hypermobility type of Ehlers-Danlos syndrome (EDS-HT). DESIGN Cross-sectional study. SETTING Physical and rehabilitation medicine department and center for medical genetics. PARTICIPANTS Patients with EDS-HT (N=79; 8 men, 71 women) were recruited for this study. INTERVENTIONS Not applicable. MAIN OUTCOME MEASURES Patients filled out questionnaires regarding type of complaints, medication use, surgery, physiotherapy, and outcome of treatment. Functional impairment in daily life was measured by the Sickness Impact Profile. Pain severity was assessed with visual analog scales. RESULTS Patients reported a large number of complaints, a considerable presence of severe pain, and a clinically significant impact of disease on daily functioning. Most patients (92.4%) used medications, among which analgesics were the most prevalent. Fifty-six patients (70.9%) underwent surgery, including mainly interventions of the extremities and abdomen. Forty-one patients (51.9%) are currently enrolled in a physical therapy program, mainly comprising neuromuscular exercises, massage, and electrotherapy. Patients with a high consumption of analgesics, who visited the physiotherapist, or who underwent surgery had a higher dysfunction in daily life. Only 33.9% of the patients who underwent surgery and 63.4% of patients in physical therapy reported a positive outcome. CONCLUSIONS Patients with EDS-HT have numerous complaints and an impaired functional status that strongly determine their high rate of treatment consumption. The outcome of surgical and physiotherapy treatment is disappointing in a large percentage, which illustrates a strong need for evidence-based therapy.

Impairment and impact of pain in female patients with Ehlers‐Danlos syndrome: A comparative study with fibromyalgia and rheumatoid arthritis

OBJECTIVE The purpose of this study was to investigate functional impairment and the impact of pain in patients with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and to compare the burden of disease with that in women with fibromyalgia (FM) and rheumatoid arthritis (RA). METHODS A total of 206 female patients were compared (72 with EDS-HT, 69 with FM, and 65 with RA). Functional impairment was assessed with the Sickness Impact Profile (SIP), and the psychosocial impact of chronic pain was quantified with the Multidimensional Pain Inventory (MPI). Data on symptoms were collected. RESULTS SIP results showed clinically relevant health-related dysfunction in all groups. Significantly poorer physical, psychosocial, and overall function was found in the EDS-HT group compared with the RA group. In comparison with the FM group, the EDS-HT group reported similar physical and overall function, but better psychosocial function. T scores from the MPI revealed significantly higher levels of pain severity and life interference due to pain, and a lower level of perceived life control, in the EDS-HT group compared to the RA group. In contrast, the EDS-HT group showed significantly lower levels of pain severity, life interference, and affective distress in comparison with the FM group. Social support for help in coping with pain was similar between the 3 groups. CONCLUSION EDS-HT is associated with a consistent burden of disease, similar to that of FM and worse than that of RA, as well as a broad impact of chronic pain on daily life, which needs to be addressed in the health care system.

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome

EDS-HT is a connective tissue disorder characterized by large inter-individual differences in the clinical presentation, complicating diagnosis and treatment. We aim to describe the clinical heterogeneity and to investigate whether differences in the symptom profile are also reflected as disparity in functional impairment and pain experience. In this study, 78 patients were asked to describe their symptoms due to EDS-HT. Next, a hierarchical cluster analysis was performed using the Jaccard measure of similarity to assess whether subgroups could be distinguished based on the symptoms reported. This analysis yielded 3 clusters of participants with distinct complaint profiles. The key differences were found in the domain of non-musculoskeletal complaints, which was significantly larger in cluster 2. Furthermore, cluster 2 was characterized by a worse physical and psychosocial health, a higher pain severity and a larger pain interference in daily life. The results emphasize that non-musculoskeletal symptoms are an important complication of EDS-HT, as the number of these complaints was found to be a significant predictor for both functional health status (SIP) and pain experience (MPI). In conclusion, this study confirms that EDS-HT is a heterogeneous entity and encourages the clinician to be more aware of the large variety of EDS-HT symptoms, in order to improve disease recognition and to establish more tailored treatment strategies.

Effect of combined exercise training on physical and metabolic fitness in adults with intellectual disability: a controlled trial

Objective: Investigating the effect of combined aerobic and strength training on metabolic and physical fitness in adults with intellectual disabilities compared to endurance training and no training. Design: A controlled trial with patients receiving either combined (COM), endurance (END) or no training (C). Setting: Two centres for intellectual disabilities (Sterrenhuis, Brasschaat and Emiliani, Lokeren, Belgium). Subjects: Forty-five adults with intellectual disabilities (mean age: 42 (9,2), mean body mass index (BMI): 24 (3,9), mean IQ: 56 (5,6)). Intervention: Combined exercise training (n = 15) and endurance training (n = 15) twice a week for 70  minutes per session for 20 weeks and no training (n = 15). Groups were matched for age, sex and intellectual disability. Main measures: Lipid profile, physical fitness (primary); blood pressure and body composition. Results: Compared to no training, combined exercise training has significant positive effects on total cholesterol levels, aerobic capacity, muscle strength and resting systolic blood pressure, while endurance exercise training has significant effects on aerobic capacity and resting systolic blood pressure. Compared to endurance training, combined exercise training resulted in a significant better evolution of total cholesterol (mean differences: −18 versus −3 mg/dl), 1RM upper (+6 versus +1  kg) and lower limb (+25 versus +8  kg) and abdominal muscles (+15 versus +1  kg), hand grip strength (+9 versus +2  kg), muscle fatigue resistance (+11 versus +5  sec), sit-to-stand (+5 versus +2/30   sec) and systolic blood pressure (−15 versus −10 mmHg). Conclusion: This study revealed a tendency towards more beneficial effects of combined exercise training in adults with intellectual disability.

Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: A comparative study with two other EDS types, fibromyalgia, and healthy controls

AIM This study provides insight into the profile and importance of autonomic symptoms in the hypermobility type (HT) of Ehlers-Danlos syndrome (EDS). The impact of these symptoms is put into perspective by comparing with fibromyalgia (FM) and two other EDS types. METHODS Overall, 80 patients with EDS-HT participated, as well as 11 with classical EDS (cEDS), seven with vascular EDS (vEDS), 38 with FM, and 43 healthy controls. All participants filled out the autonomic symptom profile (ASP). Furthermore, they were inquired about quality of life (QOL, SF-36) and factors contributing to the EDS disease burden, e.g., hypermobility (5-point questionnaire, GHQ), fatigue (checklist individual strength, CIS), pain (pain detect questionnaire, PDQ), affective distress (hospital anxiety and depression scale, HADS), and physical activity (Baecke). RESULTS The total autonomic symptom burden was higher in EDS-HT (57.9 ± 21.57) than in controls (11.3 ± 19.22), cEDS (32.3 ± 19.47), and vEDS (29.1 ± 19.18), but comparable to FM (53.8 ± 19.85). Especially orthostatic and gastrointestinal complaints were prevalent. The importance of autonomic symptoms in EDS-HT was emphasized by the correlation with lowered QOL (r = -0.402), fatigue (r = 0.304), and pain severity (r = 0.370). Although affective distress and decreased physical activity are often suggested as possible causes for dysautonomia, the ASP did not correlate with the HADS and Baecke score. By contrast, the correlation of the GHQ (r = 0.298) and PDQ (r = 0.413) with the ASP supports the hypothesis that joint hypermobility and neuropathy may play a role in the development of autonomic symptoms. CONCLUSION Autonomic symptoms, especially orthostatic and gastrointestinal complaints, are frequent extraarticular manifestations of EDS-HT and contribute to the disease burden.