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.

中文翻译：

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Ehlers-Danlos 综合征和过度活动性谱系障碍的呼吸系统表现及其管理综述

背景：

Ehlers-Danlos 综合征 (EDS) 和活动过度谱障碍 (HSD) 是一组异质的遗传性遗传性结缔组织疾病，具有多种特征，包括关节活动过度、组织脆性和多器官功能障碍。在 EDS 患者中已经描述了呼吸系统表现，但尚未系统地描述其特征。进行了叙述性审查以描述 EDS 和 HSD 个体的呼吸系统表现和管理策略。

方法：

从开始到 2020 年 11 月，对所有研究类型的 Medline、Embase、Cochrane 系统评价数据库和 Cochrane CENTRAL 进行了广泛的文献检索，评估 EDS/HSD 和肺部状况。这种叙述性审查仅限于成年患者和英文出版物。

结果：

呼吸系统表现通常在超移动型 EDS (hEDS)、经典型和血管型 EDS 亚型中有所描述。根据 EDS 亚型，它们可能包括但不限于呼吸困难、发音困难、哮喘、睡眠呼吸暂停和呼吸肌功能降低，血胸和气胸通常在血管性 EDS 中观察到。HSD 的呼吸系统表现在文献中很少见，但劳力性呼吸困难是更常见的症状。EDS 中的呼吸系统症状会对生活质量产生不利影响。EDS 患者的呼吸管理遵循标准方法，包括胸膜切开管和胸膜固定术、声带强化锻炼、睡眠呼吸暂停的持续正压支持和运动训练。

结论：

呼吸系统症状和表现在 EDS 和 HSD 中进行了描述，并且通常使用保守的非手术策略进行管理。需要对 EDS 和 HSD 的患病率、发病率和特定呼吸管理策略进行研究，以减轻一些相关的发病率。