A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders.

BACKGROUND: Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) are a heterogeneous group of heritable genetic connective tissue disorders with multiple characteristics including joint hypermobility, tissue fragility, and multiple organ dysfunction. Respiratory manifestations have been described in EDS patients, but have not been systematically characterized. A narrative review was undertaken to describe the respiratory presentations and management strategies of individuals with EDS and HSD. METHODS: A broad literature search of Medline, Embase, Cochrane Database of Systematic Reviews, and Cochrane CENTRAL was undertaken from inception to November 2020 of all study types, evaluating EDS/ HSD and pulmonary conditions. This narrative review was limited to adult patients and publications in English. RESULTS: Respiratory manifestations have generally been described in hypermobile EDS (hEDS), classical and vascular EDS subtypes. Depending on EDS subtype, they may include but are not limited to dyspnea, dysphonia, asthma, sleep apnea, and reduced respiratory muscle function, with hemothorax and pneumothorax often observed with vascular EDS. Respiratory manifestations in HSD have been less frequently characterized in the literature, but exertional dyspnea is the more common symptom described. Respiratory symptoms in EDS can have an adverse impact on quality of life. The respiratory management of EDS patients has followed standard approaches with thoracotomy tubes and pleurodesis for pleural manifestations, vocal cord strengthening exercises, continuous positive pressure support for sleep apnea, and exercise training. Reduced respiratory muscle function in hEDS patients responds to inspiratory muscle training. CONCLUSION: Respiratory symptoms and manifestations are described in EDS and HSD, and have generally been managed using conservative non-surgical strategies. Research into the prevalence, incidence and specific respiratory management strategies in EDS and HSD is needed to mitigate some of the associated morbidity.

Sleep disordered breathing in women of childbearing age & during pregnancy.

Obstructive sleep apnoea (OSA) affects 11 per cent of pre-menopausal women though it often remains undetected. Women may present differently than men, and the classic findings of snoring, witnessed apnoeas and sleepiness may not be observed. Factors which predispose to OSA include polycystic ovarian syndrome, obesity, retromicrognathia, and hypothyroidism. OSA may contribute to neurocognitive dysfunction, depression, hypertension and metabolic syndrome. Emerging evidence indicates that snoring and OSA increase during pregnancy. For normal women with normotensive, low-risk pregnancies the prevalence of OSA is very low. Among normotensive pregnant women with high risk pregnancies, the prevalence of OSA is high and is even higher among those with gestational hypertension/preeclampsia during pregnancy. Incident snoring, which is a marker for OSA, is associated with an increased risk of developing gestational hypertension. Recent studies indicate that OSA per se is an independent risk factor for gestational hypertension/pre-eclampsia and may contribute to other poor obstetrical outcomes. The diagnostic test of choice for OSA is a polysomnography with electroencephalogram. Milder degree of disease than what is usually considered clinically significant among men or non-pregnant women appears to be relevant for foetomaternal outcomes. There seems to be benefit for blood pressure control to treating even milder degrees of OSA with CPAP, both acutely and over the 9 months of pregnancy. Chronic hypertensive women should be strongly considered for diagnosis and treatment of OSA prior to or beginning as early as possible in pregnancy to help maintain blood pressure control. Increasing awareness of OSA among maternal health care providers is important given the potential benefits for pregnancy and other health-related outcomes associated with identification and treatment of OSA.

Factors influencing the use and nonuse of continuous positive airway pressure therapy: a comparative case study.

The rates of sustained use of continuous positive airway pressure (CPAP) therapy among adults with obstructive sleep apnea (OSA) appear consistently suboptimal, despite the efficacy of this treatment. Using semistructured interviews, this study identified facilitators and barriers toward CPAP therapy after treatment initiation among patients with OSA. A purposive sample of eight patients representing extreme differences in CPAP use was recruited from a multisite sleep disorders clinic at a tertiary health center. Perceived physical, psychological, and social factors were found to influence both CPAP use and nonuse. It was revealed that the way patients feel about themselves influences the ways in which they manage their OSA with or without CPAP This study underlines the necessity of working with patients and their families to create social environments that are both accepting and supportive of patients with OSA.