Sleep Medicine Division, Stanford University, Stanford Outpatient Medical Center, Redwood City, CA.
Sleep Medicine Division, Stanford University, Stanford Outpatient Medical Center, Redwood City, CA.
Chest. 2013 Nov;144(5):1503-1511. doi: 10.1378/chest.13-0174.
The objective of this study was to investigate the presence of sleep-disordered breathing (SDB) in patients with Ehlers-Danlos syndrome. Ehlers-Danlos syndrome is a genetic disorder characterized by cartilaginous defects, including nasal-maxillary cartilages.
A retrospective series of 34 patients with Ehlers-Danlos syndrome and complaints of fatigue and poor sleep were evaluated by clinical history, physical examination, polysomnography (PSG), and, in some cases, anterior rhinomanometry. Additionally, a prospective clinical investigation of nine patients with Ehlers-Danlos syndrome was performed in a specialized Ehlers-Danlos syndrome clinic.
All patients with Ehlers-Danlos syndrome evaluated had SDB on PSG. In addition to apneas and hypopneas, SDB included flow limitation. With increasing age, flow limitation decreased in favor of apnea and hypopnea events, but clinical complaints were similar independent of the type of PSG finding. In the subgroup of patients who underwent nasal rhinomanometry, increased nasal resistance was increased relative to normative values. Nasal CPAP improved symptoms. Patients with Ehlers-Danlos syndrome presenting to the medical clinic had symptoms and clinical signs of SDB, but they were never referred for evaluation of SDB.
In patients with Ehlers-Danlos syndrome, abnormal breathing during sleep is commonly unrecognized and is responsible for daytime fatigue and poor sleep. These patients are at particular risk for SDB because of genetically related cartilage defects that lead to the development of facial structures known to cause SDB. Ehlers-Danlos syndrome may be a genetic model for OSA because of abnormalities in oral-facial growth. Early recognition of SDB may allow treatment with orthodontics and myofacial reeducation.
本研究旨在探讨埃勒斯-当洛斯综合征（EDS）患者是否存在睡眠呼吸障碍（SDB）。EDS 是一种遗传性疾病，其特征为软骨缺陷，包括鼻-上颌软骨。
通过临床病史、体格检查、多导睡眠图（PSG），并在某些情况下进行前鼻测压法，对 34 例有 EDS 且有疲劳和睡眠不佳主诉的患者进行回顾性系列评估。此外，在一家专门的 EDS 诊所对 9 例 EDS 患者进行了前瞻性临床研究。
所有接受评估的 EDS 患者的 PSG 均显示存在 SDB。除了呼吸暂停和低通气外，SDB 还包括流量受限。随着年龄的增长，流量受限减少，呼吸暂停和低通气事件增加，但无论 PSG 结果如何，临床症状相似。在接受鼻测压法的患者亚组中，与正常参考值相比，鼻阻力增加。鼻持续气道正压通气（CPAP）可改善症状。就诊于内科诊所的 EDS 患者有 SDB 的症状和临床体征，但从未被转诊进行 SDB 评估。
在 EDS 患者中，睡眠期间的异常呼吸通常未被识别，这是导致白天疲劳和睡眠不佳的原因。由于与遗传相关的软骨缺陷导致已知会引起 SDB 的面部结构发育，这些患者发生 SDB 的风险特别高。由于口腔颌面生长的异常，EDS 可能是 OSA 的遗传模型。早期识别 SDB 可能允许通过正畸和肌肉功能再教育进行治疗。
