Related Experiment Video
Updated: Sep 21, 2025
Novel and Innovative Hybrid Technique for Type A Aortic Dissection
Published on: March 28, 2025
Extensive Aortic Thromboembolism in a Patient With Erdheim-Chester Disease: A Case Report
Jiangping He1, Xin Fang2, Xianfeng Zhang1
1Department of Rheumatology, Affiliated Hangzhou First People's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Insights
Erdheim-Chester disease (ECD), a rare histiocytosis, can cause dangerous arterial thrombosis and embolism. This case highlights the critical need to consider cardiovascular complications in ECD diagnosis and management.
Area of Science:
- Cardiovascular Medicine
- Rare Diseases
- Histiocytosis
Background:
- Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis affecting multiple systems.
- Classic ECD manifestations include bone, CNS, and aortic involvement, but not typically cardiac thrombosis.
- This report focuses on an unusual ECD presentation with extensive arterial thrombus formation.
Observation:
- A 36-year-old woman presented with fever, cyanosis, and elevated inflammatory markers.
- Imaging revealed extensive aortic and arterial thrombosis, splenic infarction, and stenosis.
- The patient also exhibited diabetes insipidus and bone lesions confirmed as ECD.
Findings:
- Despite initial treatment with steroids and tocilizumab, thrombosis progressed.
- Switching to interferon-α stabilized the patient's condition.
- This case underscores thrombosis as a potentially fatal cardiovascular manifestation of ECD.
Implications:
- Recognizing arterial thrombosis as a potential ECD complication is crucial for timely diagnosis.
- Aggressive anticoagulation and immunosuppressive therapy may be necessary for managing ECD-related thrombosis.
- Further research is needed to elucidate the mechanisms linking ECD and thrombosis.
Background:
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.
Case:
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.
Conclusion:
Although extremely rare, fatal thrombosis may be a significant cardiovascular manifestation of ECD.
