Han Beisi, Li Su, Ye Yutian, Lu Xiaoyu, Zhang Heng
School of Medicine, Southern University of Science and Technology, Shenzhen, China.
Department of Radiation Oncology, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology; The Second Clinical Medical College, Jinan University), Shenzhen, China.
Front Med (Lausanne). 2025 Aug 8;12:1648439. doi: 10.3389/fmed.2025.1648439. eCollection 2025.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare but life-threatening subtype of the Ehlers-Danlos syndromes (EDS), a group of inherited connective tissue disorders with significant clinical and genetic heterogeneity. vEDS is mainly caused by mutations in the gene, leading to type III collagen abnormalities. vEDS is characterized by increased vascular fragility and predisposition to serious complications such as arterial rupture and gastrointestinal perforation. However, vEDS cases with hemothorax as the primary manifestation are extremely rare and are easily misdiagnosed or underdiagnosed.
We report a 28-year-old man who was admitted to the hospital with a sudden onset of right-sided chest and back pain. Imaging examinations and thoracentesis revealed a massive right-sided hemothorax and a right posterior chest wall hematoma. The patient had a medical history of two episodes of spontaneous pneumothorax, as well as arterial aneurysms and dissections, along with a family history of major arterial rupture. After admission, his hemoglobin level progressively declined, which stabilized following right intercostal artery embolization. Genetic testing ultimately identified a heterozygous mutation, confirming the diagnosis of vEDS.
In this case, the patient presented with a massive right-sided hemothorax and a large chest wall hematoma without any obvious precipitating factors, in the absence of other typical clinical manifestations of vEDS, such as gastrointestinal perforation, which increased the diagnostic challenge. Possible pathogenic mechanisms include type III collagen abnormalities leading to increased fragility of the subpleural vessels, triggering vascular rupture. Clinically, young patients with recurrent hemothorax or multiple arterial lesions should be kept on high alert for early genetic testing to clarify the diagnosis and optimize management. This case helps to raise awareness of the heterogeneous clinical manifestations of vEDS and to avoid misdiagnosis and underdiagnosis.
血管型埃勒斯-当洛综合征（vEDS）是埃勒斯-当洛综合征（EDS）的一种罕见但危及生命的亚型，EDS是一组遗传性结缔组织疾病，具有显著的临床和遗传异质性。vEDS主要由该基因的突变引起，导致III型胶原蛋白异常。vEDS的特征是血管脆性增加，易发生严重并发症，如动脉破裂和胃肠道穿孔。然而，以血胸为主要表现的vEDS病例极为罕见，容易被误诊或漏诊。
我们报告一名28岁男性，因突发右侧胸痛和背痛入院。影像学检查和胸腔穿刺显示右侧大量血胸和右后胸壁血肿。该患者有两次自发性气胸病史，以及动脉动脉瘤和夹层病史，并有主要动脉破裂的家族史。入院后，他的血红蛋白水平逐渐下降，在右侧肋间动脉栓塞后稳定。基因检测最终确定了一个杂合突变，确诊为vEDS。
在本病例中，患者出现右侧大量血胸和巨大胸壁血肿，无任何明显诱发因素，且无vEDS的其他典型临床表现，如胃肠道穿孔，这增加了诊断难度。可能的致病机制包括III型胶原蛋白异常导致胸膜下血管脆性增加，引发血管破裂。临床上，对于反复出现血胸或有多处动脉病变的年轻患者，应高度警惕，尽早进行基因检测以明确诊断并优化治疗。本病例有助于提高对vEDS异质性临床表现的认识，避免误诊和漏诊。
