Liu QingHua, Zeng Ganhua, Xiong Yu, Xu Chenyang
People's Hospital of Ganzhou City, Jiangxi Province, Ganzhou, China.
Front Med (Lausanne). 2025 Jan 28;12:1514349. doi: 10.3389/fmed.2025.1514349. eCollection 2025.
Ehlers-Danlos Syndrome (EDS) refers to a group of connective tissue disorders characterized by significant clinical and genetic variability, affecting multiple systems in the body. Classified as a rare disease, EDS includes 14 subtypes, all marked by joint hypermobility, skin extensibility, and tissue fragility. These subtypes present with a wide range of clinical manifestations and severities, including frequent joint dislocations, scoliosis, arterial dissections, and organ ruptures. Hypermobile EDS (hEDS) is the most common subtype, with newly established clinical diagnostic guidelines. In this case, a patient presented with minor hemoptysis over 8 h, and a chest CT scan revealed a massive hematoma in the left lower lung. Due to the complexity and varied presentations of EDS, misdiagnosis is common. This report shares our experience with diagnosis and treatment in this case, highlighting the importance of increasing awareness for improved survival outcomes.
埃勒斯-当洛综合征(EDS)是指一组结缔组织疾病,其临床和遗传变异性显著,影响身体多个系统。EDS被归类为罕见病,包括14个亚型,均以关节活动过度、皮肤延展性和组织脆弱性为特征。这些亚型表现出广泛的临床表现和严重程度,包括频繁的关节脱位、脊柱侧弯、动脉夹层和器官破裂。活动过度型EDS(hEDS)是最常见的亚型,有新制定的临床诊断指南。在本病例中,一名患者在8小时内出现少量咯血,胸部CT扫描显示左下肺有巨大血肿。由于EDS的复杂性和表现多样,误诊很常见。本报告分享了我们对该病例的诊断和治疗经验,强调了提高认识以改善生存结果的重要性。