He Jiangping, Fang Xin, Zhang Xianfeng, Chen Kuang, Huang Jiao
Department of Rheumatology, Affiliated Hangzhou First People's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Department of Vascular Surgery, Affiliated Hangzhou First People's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Front Cardiovasc Med. 2022 May 13;9:882817. doi: 10.3389/fcvm.2022.882817. eCollection 2022.
Erdheim-Chester disease (ECD) is a rare disease that affects multiple systems and is characterized by non-Langerhans cell histiocytosis. Classic clinical signs include long bone infiltration, central nervous system involvement, diabetes insipidus, and sheathing of the entire aorta. However, thrombosis is not recognized as a typical cardiac manifestation of ECD. Here, we report the case of an ECD patient with extensive arterial thrombus formation and embolism in several sections of the aorta.
A 36-year-old woman was admitted due to recurrent fever and left finger cyanosis for 20 days. Laboratory tests revealed that her C-reactive protein and interleukin-6 levels were significantly elevated. Thoracic computed tomographic angiography (CTA) revealed thrombosis from the aortic arch to the left subclavian artery accompanied by severe stenosis of the left subclavian artery. Abdominal CTA revealed splenic infarction due to splenic artery embolism and thrombus formation in multiple abdominal arteries. She underwent emergent arterial thrombectomy. During hospitalization, she complained of polyuria. The desmopressin test and pituitary magnetic resonance imaging findings suggested diabetes insipidus. Furthermore, positron emission tomography-computed tomography and bone emission computed tomography showed long bone impairment, and pathological examination of the bone samples confirmed ECD. Steroids and tocilizumab were selected as the initial therapies; however, thrombosis continued to develop. After replacement of tocilizumab with interferon-α, her condition became stable.
Although extremely rare, fatal thrombosis may be a significant cardiovascular manifestation of ECD.
Erdheim-Chester病（ECD）是一种累及多个系统的罕见疾病，其特征为非朗格汉斯细胞组织细胞增多症。典型的临床体征包括长骨浸润、中枢神经系统受累、尿崩症以及整个主动脉的鞘膜形成。然而，血栓形成并不被认为是ECD的典型心脏表现。在此，我们报告一例ECD患者，其主动脉多个节段出现广泛的动脉血栓形成和栓塞。
一名36岁女性因反复发热和左手指发绀20天入院。实验室检查显示其C反应蛋白和白细胞介素-6水平显著升高。胸部计算机断层血管造影（CTA）显示从主动脉弓到左锁骨下动脉的血栓形成，同时左锁骨下动脉严重狭窄。腹部CTA显示脾动脉栓塞导致脾梗死以及多条腹部动脉血栓形成。她接受了紧急动脉血栓切除术。住院期间，她主诉多尿。去氨加压素试验和垂体磁共振成像结果提示尿崩症。此外，正电子发射断层扫描-计算机断层扫描和骨发射计算机断层扫描显示长骨损害，骨样本的病理检查确诊为ECD。最初选择使用类固醇和托珠单抗进行治疗；然而，血栓仍继续发展。在用干扰素-α替代托珠单抗后，她的病情趋于稳定。
尽管极为罕见，但致命性血栓形成可能是ECD的一种重要心血管表现。
