- VernacularTitle:遗传性血管性水肿一例
- Author:
Zusha QIAO
1
;
Yan WANG
1
;
Yanqing WANG
1
;
Lu YANG
1
;
Yan MA
1
Author Information
- Publication Type:Journal Article
- Keywords: hereditary angioedema; C1 esterase inhibitor; complement C4
- From: JOURNAL OF RARE DISEASES 2025;4(3):331-333
- CountryChina
- Language:Chinese
-
Abstract:
A 43-year-old male patient presented with recurrent edema in different anatomical sites for over 10 years, with facial edema worsening 1 day prior to admission. He had been repeatedly admitted to dermatology, general surgery, and emergency departments of external hospitals due to " acute abdomen" and " laryngeal edema, " resistant to antihistamines and glucocorticoid therapy. Physical examination revealed non-pitting swelling of the right upper eyelid, bilateral cheeks, and lips asymmetrically. On the night of admission, he developed acute laryngeal edema with dyspnea, which was promptly treated, leading to clinical stabilization. Laboratory screening during the attack revealed decreased serum complement C4 levels, along with reduced functional activity and concentration of C1 esterase inhibitor, confirming a diagnosis of type 1 hereditary angioedema. The patient received lanadelumab for prophylaxis and achieved satisfactory clinical outcomes. He remains under long-term follow-up.

