Benattia A, Benistan K, Frank M, Boussouar S
Service de pneumologie, hôpital Saint-Louis, AP-HP, Paris, France.
Centre de référence des syndromes d'Ehlers-Danlos non vasculaires, hôpital Raymond-Poincaré, AP-HP, Garches, France; UMR U1179 Inserm, université Versailles Saint-Quentin, Montigny-le-Bretonneux, France.
Rev Mal Respir. 2023 Mar;40(3):254-264. doi: 10.1016/j.rmr.2023.01.009. Epub 2023 Feb 4.
Ehlers-Danlos syndromes (EDS) represent a heterogeneous group of heritable connective tissue disorders characterized by the clinical "triad" consisting in joint hypermobility, skin hyperextensibility and tissue fragility. Respiratory manifestations associated with EDS are frequent and variable. They vary mainly according to the type of EDS. In hypermobile and classical EDS, the most frequent non-vascular types, dyspnea is a common symptom. Its etiologies are wide-ranging and can coexist in the same patient: asthma, respiratory muscle weakness, chest wall abnormalities, upper and lower airway collapse. The prevalence of obstructive sleep apnea syndrome in nvEDS is high. Identification of the relevant dyspnea mechanism is essential to providing appropriate therapeutic measures. In vascular EDS (vEDS), the main pulmonary complications are pneumothorax, hemothorax and hemoptysis. As they frequently precede the diagnosis of vEDS by several years, it is imperative to raise the possibility of vEDS in a young patient with spontaneous pneumothorax or hemothorax. The presence of suggestive computed tomography parenchymal abnormalities (emphysema, clusters of calcified nodules, cavitated nodule) can be an aid to diagnosis. Treatment is based on the usual approaches, which must be carried out with caution by an experienced operator fully informed of the diagnosis. Better knowledge of respiratory manifestations of EDS by the pneumological community would improve patient care and pave the way for further research.
埃勒斯-当洛综合征(EDS)是一组遗传性结缔组织疾病的统称,其临床特征为“三联征”,即关节活动过度、皮肤过度伸展和组织脆弱。与EDS相关的呼吸系统表现常见且多样,主要因EDS类型而异。在活动过度型和经典型EDS(最常见的非血管型)中,呼吸困难是常见症状。其病因广泛,可在同一患者中共存:哮喘、呼吸肌无力、胸壁异常、上呼吸道和下呼吸道塌陷。在血管型EDS(vEDS)中,主要的肺部并发症是气胸、血胸和咯血。由于这些并发症常常在vEDS诊断前数年就已出现,因此对于患有自发性气胸或血胸的年轻患者,必须提高警惕,考虑vEDS的可能性。计算机断层扫描显示的实质性异常表现(肺气肿、钙化结节簇、空洞性结节)有助于诊断。治疗基于常规方法,但经验丰富且充分了解诊断情况的操作人员必须谨慎实施。呼吸科医生对EDS呼吸系统表现有更深入的了解,将改善患者护理,并为进一步研究铺平道路。