Multiple Sustainable Benefits of a Rehabilitation Program in Therapeutic Management of Hypermobile Ehlers-Danlos Syndrome: A Prospective and Controlled Study at Short- and Medium-Term.

OBJECTIVE: To evaluate the effects of a 9-week rehabilitation program (RP) for patients with hypermobile Ehlers-Danlos syndrome (hEDS) in the short- and medium-term. DESIGN: Nonrandomized controlled trial with 6 months follow-up. SETTING: Outpatient rehabilitation program. PARTICIPANTS: A referred sample of 36 hEDS patients were assessed for eligibility (N=36), 25 were included, 22 completed the RP and 19 completed the follow-up. INTERVENTIONS: A 9 -week control period without intervention followed by a 9-week RP. MAIN OUTCOME MEASURE: Functional exercise capacity was used as a primary outcome measure. Balance, kinesiophobia, fatigue, pain, quality of life, anxiety, depression, and hyperventilation were measured as secondary outcomes. RESULTS: No significant change was observed during the 9-week control period before the RP. There was a significant improvement immediately after the RP for the functional exercise capacity, balance with eyes closed, fatigue, and quality of life (P<.05). Even more improvements were found 6 weeks after the end of the RP, and there was still an improvement after 6 months in functional exercise capacity, kinesiophobia, depression, hyperventilation, and some components of the quality of life. CONCLUSION: This study supports the effectiveness of an RP as a useful management tool for hEDS patients.

Evidence of ventilatory constraints during exercise in hypermobile Ehlers-Danlos syndrome.

PURPOSE: Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder with many different symptoms such as pain, fatigue, dysautonomia, or respiratory symptoms. Among the respiratory manifestations described, the most frequent are exertional dyspnea and breathing difficulties. Mechanical ventilatory constraints during exercise could participate in these respiratory manifestations. The objective of this study was to explore the response of pulmonary flow-volume loops to exercise in patients with hEDS and to look for dynamic hyperinflation and expiratory flow limitation during exercise. METHODS: For this purpose, breathing pattern and tidal exercise flow-volume loops were recorded at two workloads (30% and 80% of the peak power output) of a constant load exercise test. RESULTS: Twelve patients were included (11 women, mean age 41 ± 14 years). The results showed a decrease (p = 0.028) in the inspiratory capacity (from 3.12 ± 0.49 L to 2.97 ± 0.52 L), an increase (p = 0.025) in the end-expiratory lung volume (from 0.73 ± 0.68 L to 0.88 ± 0.66 L, i.e., from EELV comprising 17 ± 12% to 21 ± 12% of forced vital capacity) between the two workloads in favor of dynamic hyperinflation, and half of the patients had expiratory flow limitations. CONCLUSION: This exploratory study provides evidence for mechanical ventilatory constraints during exercise in patients with hEDS, which may induce discomfort during exercise and could contribute to the respiratory symptomatology. TRIAL REGISTRATION NUMBER: This study is part of a larger clinical trial (ID: NCT04680793, December 2020).

Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study.

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders with an impaired quality of life in association with fatigue, pain, and kinesiophobia. A retrospective evaluation of the effects of an outpatient rehabilitation program (RP) was performed in Ehlers-Danlos syndrome hypermobile type (hEDS) patients. The 6-minute walk test (6MWT) was used to evaluate functional capacity. Kinesiophobia, fatigue, pain, and quality of life were self-evaluated at the start, at the end, and 6 weeks after the end of the RP. The retrospective analysis of patients' records showed significant improvement for the walked distance during the 6MWT (491.8 ± 72.5 vs. 439.4 ± 100.9 m) maintained at 6-week follow-up (p = .001), significant improvement for kinesiophobia (p = .033) and the impact of fatigue on activity (p = .01), and significant increase for quality of life with in particular improvements of vitality (p = .001). This retrospective study showed encouraging results of a RP for hEDS patients on functional capacity and quality of life, and prospective studies with long-term follow-up are needed to confirm them.

Impairment of lung volume perception and breathing control in hypermobile Ehlers-Danlos syndrome.

Breathing difficulties and exertional dyspnea are frequently reported in hypermobile Ehlers-Danlos syndrome (hEDS); however, they are not clearly explained. An impaired proprioception or the addition of a cognitive task could influence ventilatory control. How can the perception of lung volume be measured? Is lung volume perception impaired in hEDS patients? Is the breathing control impaired during a cognitive task in hEDS patients? A device was developed to assess the accuracy of lung volume perception in patients with hEDS and matched control subjects. In the second step, ventilation was recorded in both groups with and without a cognitive task. Two groups of 19 subjects were included. The accuracy of lung volume perception was significantly (P < 0.01) lower at 30% of inspired vital capacity in patients with hEDS in comparison to the control group, and they showed erratic ventilation (based on spatial and temporal criteria) when performing a cognitive task. These data support the influence of the proprioceptive deficit on ventilatory control in hEDS patients. These elements may help to understand the respiratory manifestations found in hEDS. Future research should focus on this relationship between lung volume perception and ventilation, and could contribute to our understanding of other pathologies or exercise physiology.Trial registration number: ClinicalTrials.gov, NCT05000151.

What are the most important symptoms to assess in hypermobile Ehlers-Danlos syndrome? A questionnaire study based on the Delphi technique.

PURPOSE: This study aims to determine from questionnaires, submitted to patients with Ehlers-Danlos syndrome hypermobile type (hEDS), what symptoms they perceive as having the most impact on their well-being and, according to them, what symptoms should be assessed. MATERIALS AND METHODS: Three rounds of online questionnaires were conducted following the Delphi method. The first round allowed us to obtain the most important symptoms to assess according to the patients. The second and third round aimed at ranking the categories according to their order of importance. Establishment of a consensus was evaluated using Kendall's coefficient of concordance. RESULTS: A total of 118 responses were analyzed for the first round and 87 for the second and the third round. Ten categories were extracted from the first round. Ranking of the 10 categories in the second round did not reach consensus (W = 0.33, p < 0.001) nor did the four most important categories in the third round (W = 0.43, p < 0.001). However, three categories stand out from ranking: "pain", "fatigue and sleep disorders", and "musculoskeletal disorders". CONCLUSIONS: These categories seem to be the most important to assess in patients with hEDS, despite the lack of consensus on this ranking.Implications for rehabilitationPain, fatigue and sleep disorders, and musculoskeletal disorders should be given high consideration in the assessment of patients with hypermobile Ehlers-Danlos syndrome (EDS).The high phenotypic variability in the hypermobile EDS requires individualized assessment for each patient and a multidisciplinary approach.

Cell and cytokine profile in nasal secretions in cystic fibrosis.

BACKGROUND: Nasal polyposis (NP) frequently complicates the course of cystic fibrosis (CF). The aim of this study was to determine the pattern of inflammatory cells and mediators in nasal secretions from patients with or without NP compared to patients with idiopathic NP and healthy controls. METHODS: Eighteen CF patients with NP (NP+ group: 6 untreated, 12 treated with nasal steroids), and 15 without NP (NP- group) were included in this prospective study and compared to 9 patients with idiopathic NP and 12 healthy controls. Differential cell count eosinophil cationic protein (ECP), interleukin-5 (IL-5) and IL-8 were determined in nasal lavage fluids. RESULTS: The total cell count, the number and the percentage of neutrophils and eosinophils, the levels of IL-8, IL-5 and ECP were significantly higher in nasal secretions from both NP+ and NP- as compared with controls. No difference was found between untreated and treated CF patients with NP. No difference was found between NP+ and NP- groups. Compared to idiopathic NP group, both NP+ and NP- groups had higher percentage of neutrophils and lower percentage of eosinophils. There were no differences according to the use of topical steroids, systemic antibiotherapy, or the type of mutation. CF patients with positive nasal culture had a higher percentage of neutrophils than those with negative culture. CF patients with atopy had a higher percentage of eosinophils than non-atopic patients. CONCLUSION: Our results demonstrate that nasal inflammation is a prominent feature in patients with CF and does not differ according to the presence of NP. IL-8 and IL-5 may play crucial roles in recruitment and activation of neutrophils and eosinophils in upper airways of CF patients.