遗传性血管神经性喉水肿1例

Hereditary angioneurotic laryngeal edema: a case report

摘要:

目的 通过报道1例遗传性血管神经性喉水肿（HALE）患者的发病和诊治经过，以提高临床医师对HALE这一罕见病的认识。方法 患者，女，71岁，因"咽痛、呼吸困难伴颈部肿胀半天"、以"喉水肿"收住院。患者反复发作喉水肿、颜面水肿、四肢水肿50余年，外院一直不能明确诊断。结果 入院后积极给予对症应急处理，患者口唇颜面及颈部肿胀较前明显减轻，完善补体C4和补体C1酯酶抑制剂检查考虑为HALE，患者后赴北京查补体C1抑制物0.05 g/L，确诊为HALE，现采用达那唑治疗中，发作频率明显减少。结论 HALE是一种罕见且有致命威胁的疾病，有家族遗传倾向，易误诊，临床医生应提高认知度，避免严重并发症的发生。

关键词:喉水肿;遗传性血管性水肿

Abstract:

Objective This paper reports the pathogenesis, diagnosis and treatment of a case of HALE (hereditary angioneurotic laryngeal edema, HALE) in order to improve clinicians' awareness of HALE as a rare disease. Methods It was reported for a case of a 71-year-old female admitted with "sore throat, dyspnea and neck swelling for a long time" and "laryngeal edema". The patient suffered from recurrent laryngeal edema, facial edema and limb edema for more than 50 years, which could not be clearly diagnosed. Results After admission, the patient was given symptomatic emergency treatment, and the swelling of the mouth, face and neck of the patient was significantly reduced. The complement C4 and complement C1 esterase inhibitor tests confirmed that the patient was diagnosed as HALE. The patient went to Beijing for examination of complement C1 esterase inhibitor (0.05 g/L) was diagnosed as HALE. And the onset frequency was significantly reduced during danazol treatment. Conclusions HALE with a familial hereditary tendency is a rare and life-threatening disease, which is easy to be misdiagnosed. Clinicians should enhance awareness of it to avoid serious complications.

Key words:Laryngeal edema;Hereditary angioedema