A Case of Recurrent Abdominal Pain and Multiple-Region Edema:Multidisciplinary Treatment

VernacularTitle:反复腹痛、全身多处水肿1例:多学科协作诊疗
Author: Zhoulin HUANG ¹ ; Haiyuan MA ; Yujin YE ; Hui ZHOU ; Xuehua LI ; Yanbing LIANG ; Zhihui CHEN ; Baili CHEN
Author Information

1. 中山大学附属第一医院消化内科,广州 510062
Publication Type:Journal Article
Keywords: hereditary angioedema; abdominal pain; edema; C1 esterase inhibitor
From: JOURNAL OF RARE DISEASES 2025;4(2):208-213
CountryChina
Language:Chinese
Abstract: Hereditary angioedema(HAE)is a rare autosomal dominant disorder characterized by recur-rent,unpredictable episodes of skin and mucosal edema,which may affect the face,extremities,respiratory tract,gastrointestinal tract,and genitals,with a global prevalence of approximately 1 in 50 000.This case re-port presents a young female patient with a history of recurrent abdominal pain and multisite edema.During an acute episode,laboratory tests revealed decreased complement C4 levels along with reduced concentration and function of C1 esterase inhibitor.Computed tomography(CT)demonstrated bowel wall edema and pelvic effu-sion.Previously undiagnosed,the patient was admitted for this acute attack and was ultimately diagnosed with HAE following a multidisciplinary treatment(MDT)team discussion at our hospital.The rapid diagnosis and treatment of this case highlight the critical role of MDT in the management of complex and rare diseases.