Tapasak Brandon E, Malis David J
College of Medicine, University of Central Florida, Orlando, USA.
Otolaryngology, My Family ENT, Melbourne, USA.
Cureus. 2022 Jan 25;14(1):e21601. doi: 10.7759/cureus.21601. eCollection 2022 Jan.
Ehlers-Danlos syndrome (EDS) most often presents with the classic symptoms of skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels. However, EDS can also have uncommon presentations which are much more insidious. This case report details the author's lifelong experience living with EDS, which was diagnosed after many seemingly unrelated afflictions including fatigue, spontaneous pneumothorax, and gastroesophageal reflux disease. Studies indicate that these complications warrant investigation of the connective tissue disorder with further lifelong follow-up of disease progression. Extra care should be taken to differentiate the disorder from other heritable connective tissue disorders as well as consider the psychosocial issues these patients experience.
埃勒斯-当洛综合征（EDS）最常表现为皮肤弹性过度、关节活动过度、萎缩性瘢痕和血管脆弱等典型症状。然而，EDS也可能有不常见的表现，且更为隐匿。本病例报告详细介绍了作者患有EDS的毕生经历，该病是在经历了许多看似无关的疾病后被诊断出来的，这些疾病包括疲劳、自发性气胸和胃食管反流病。研究表明，这些并发症需要对结缔组织疾病进行调查，并对疾病进展进行进一步的终身随访。应格外注意将该疾病与其他遗传性结缔组织疾病区分开来，并考虑这些患者所经历的心理社会问题。
