Xi Chen, PhD, Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, People's Republic of China.
Ying Xue Yang, MD, Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, People's Republic of China.
Pak J Med Sci. 2014 Sep;30(5):1147-9. doi: 10.12669/pjms.305.5524.
Hereditary angioedema is a rare autosomal dominant inherited disease which is characterized by an episodic, self-limiting increase in vascular permeability. Symptoms commonly involve in nonpitting, nonpruritic skin swellings. We present a case of hereditary angioedema. The patinets complained of a recurrent abdominal pain without accompanying skin swelling whose diagnosis was delayed nearly 20 years and accepted an unnecessary surgery. According to the decreased serum C1-inhibitor and C4 concentration, the patient was finally diagnosed with hereditary angioedema type I. After treatment with danazole, the patient reported a significant decrease in the frequency of attacks and the severity of pain. HAE is a rare cause of abdominal pain, however it needs to be taken as one of the differential diagnosis of various acute abdomens in order to avoid unnecessary surgeries.
遗传性血管性水肿是一种罕见的常染色体显性遗传性疾病，其特征为发作性、自限性的血管通透性增加。症状通常涉及非凹陷性、非瘙痒性皮肤肿胀。我们报告了一例遗传性血管性水肿。患者反复出现腹痛，无伴随皮肤肿胀，其诊断被延误了近 20 年，并接受了不必要的手术。根据血清 C1 抑制剂和 C4 浓度降低，患者最终被诊断为 I 型遗传性血管性水肿。接受达那唑治疗后，患者报告发作频率和疼痛严重程度显著降低。HAE 是腹痛的罕见原因，但需要将其作为各种急性腹痛的鉴别诊断之一，以避免不必要的手术。
