Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland.
Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.
Thorax. 2017 Aug;72(8):729-735. doi: 10.1136/thoraxjnl-2016-209560. Epub 2017 Jan 10.
Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear.
In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height. Participants underwent structured interviews (including short-form 36) and level-3 respiratory polygraphy. OSA was defined as apnoea-hypopnea index ≥5/hour. Photographic craniofacial phenotyping was conducted in a subgroup. Conditional logistic regression was used to compare the prevalence of OSA.
In patients with EDS, OSA prevalence was 32% versus 6% in the matched control group (OR 5.3 (95% CI 2.5 to 11.2); p<0.001). The EDS group reported impaired quality of life in all dimensions (p<0.05) and significantly higher excessive daytime sleepiness measured by the Epworth Sleepiness Scale (median (quartiles) 11 (7-14) vs 7 (5-10); p<0.001). OSA severity was positively associated with daytime sleepiness and lower quality of life in the EDS group. There was no evidence of a difference between the two study groups in terms of craniofacial phenotypes.
The prevalence of OSA is higher in patients with EDS than in a matched control group. This is of clinical relevance as it is associated with fatigue, excessive daytime sleepiness and impaired quality of life. Further studies are needed to assess the clinical benefit of OSA treatment in patients with EDS.
NCT02435745.
患有结缔组织疾病埃勒斯-当洛斯综合征（EDS）的患者常伴有疲劳、日间嗜睡和生活质量受损。阻塞性睡眠呼吸暂停（OSA）可能是这些症状的潜在原因，但在该人群中的患病率尚不清楚。
在这项前瞻性平行队列研究中，我们纳入了 100 名成年 EDS 患者（46%为高活动型、35%为经典型和 19%为其他类型），并根据性别、年龄、体重和身高与 100 名健康成年对照进行一对一匹配。参与者接受了结构性访谈（包括 36 项简短形式）和三级呼吸描记术。OSA 的定义为每小时呼吸暂停-低通气指数≥5。在亚组中进行了照相颅面表型分析。使用条件逻辑回归比较 OSA 的患病率。
在 EDS 患者中，OSA 的患病率为 32%，而匹配对照组为 6%（OR 5.3（95%CI 2.5 至 11.2）；p<0.001）。EDS 组在所有维度上的生活质量均受损（p<0.05），并且通过 Epworth 嗜睡量表测量的日间嗜睡显著更高（中位数（四分位数）11（7-14）比 7（5-10）；p<0.001）。OSA 严重程度与 EDS 组的日间嗜睡和生活质量降低呈正相关。在颅面表型方面，两组之间没有证据表明存在差异。
与匹配对照组相比，EDS 患者 OSA 的患病率更高。这具有临床相关性，因为它与疲劳、日间嗜睡和生活质量受损有关。需要进一步研究来评估 OSA 治疗对 EDS 患者的临床获益。
NCT02435745。
