133例遗传性血管性水肿患者的临床分析

Clinical features of hereditary angioedema:analysis of 133 cases

目的分析遗传性血管性水肿(HAE)患者临床特点,总结 HAE 发病规律及临床表现模式。方法通过临床问诊、病历查阅、电话随访、家系调查等方法回顾性分析40个 HAE 家系133例患者临床及实验室资料。结果 (1)临床表现:所有患者均有肢体和/或颜面、生殖器水肿史。89例(66.9%)患者病程中出现过喉水肿,有4例患者曾经因喉水肿引起的窒息行气管切开术。102例(76.7%)患者有腹部症状包括轻微腹部不适,甚至难以耐受的腹部绞痛。对就诊时正处于腹痛发作期的6例患者行腹部 B 超检查,均发现有腹水。(2)发病频率:未经诊治时,100例(75.2%)患者发病频率≤每月1次,31例(23.3%)患者每月发病1～3次,仅2例患者发病频率≥每月4次,即每周发病1～2次。(3)家族史:8例无明确家族史。(4)类型:133例患者中130例为Ⅰ型 HAE(HAE-Ⅰ),仅1个家系中的3例患者 C1-INH 含量略高于正常,C1-INH 功能为正常值的2%,诊断为Ⅱ型 HAE(HAE-Ⅱ)。(5)长期预防性治疗:本研究中58例(43.6%)采用口服达那唑行长期预防性治疗,对所有患者都能起到预防发作的作用,大多数患者对达那唑耐受良好。结论 (1)遗传性血管水肿是一种罕见的常染色体显性遗传病。(2)我国 HAE-Ⅱ罕 S 见,跟国外报道似有不同。(3)长期应用达那唑治疗可有效预防遗传性血管水肿发作,患者耐受性好。

Objective To investigate the clinical characteristics of hereditary angioedema （HAE） .Methods The clinical data of 133 cases with HAE from 40 unrelated families were analyzed retrospectively. Results Recurrent extremity swelling and/or facial and genital edema were reported in all patients （100%）; 76.7% of the patients recalled abdominal symptoms; ascites was found in all 6 ultrasound examined patients in acute episodes. The ages of the patients ranged from 1. 5 to 70. with the mean age of the first episode of 18 ±7.The time between onset and diagnosis was 16 years. Eight of the 133 patients were recognized as sporadic cases, without definite family history. The serum C1-INH levels of 130 patients were low, only the C1-INH levels of 3 cases in 1 family were a little bit higher than the normal level. Only one of the 40 families was diagnosed as with type Ⅱ HAE （ HAE- Ⅱ ）. 43. 6% of the patients received prophylaxis with danazol. Danazol had a good efficacy in all patients and were well tolerated by most of them. Conclusions A rare autosomal dominant disease, and characterized by recurrent episodes of cutaneous swelling, abdominal pain, and laryngeal edema, HAE can be fatal. Abdominal symptoms are often underestimated. HAE-Ⅱ is very rare in China. Prophylaxis with danazol is effective and can be well tolerated.