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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 analyze the clinical features of hereditary angioedema (HAE) patients and summarize the pathogenesis and clinical manifestations of HAE. Methods The clinical and laboratory data of 133 patients with HAE pedigrees were retrospectively analyzed through clinical interrogation, medical record review, telephone follow-up and pedigree investigation. Results (1) Clinical manifestations: All patients had limbs and / or face, genital edema history. 89 patients (66.9%) had laryngeal edema during the course of the disease, and 4 patients had tracheotomy due to laryngeal edema. 102 patients (76.7%) had abdominal symptoms including mild abdominal discomfort and even refractory abdominal cramps. At the time of treatment, 6 patients undergoing abdominal pain attack were examined by abdominal B-ultrasound, and ascites were found. (2) Frequency of morbidity: The frequency of morbidity in 100 cases (75.2%) was less than once a month without treatment, and 31 cases (23.3%) had a morbidity of 1 to 3 times per month. Only 2 patients had morbidity frequency ≥ monthly 4 times, that is, the incidence of 1 or 2 times a week. (3) family history: 8 cases without a clear family history. (4) Type: Of the 133 patients, 130 were Type I HAEs (HAE-I) and only 1 patient had C1-INH slightly higher than normal and C1-INH function was 2% of normal, Diagnosis of type II HAE (HAE-Ⅱ). (5) Long-term prophylactic treatment: In this study, 58 patients (43.6%) received long-term prophylactic treatment with oral danazol for all patients to prevent seizures. Most patients were well tolerated with danazol . Conclusion (1) Hereditary angioedema is a rare autosomal dominant genetic disease. (2) China HAE-Ⅱ rare see, with foreign reports seem to be different. (3) long-term use of danazol treatment can effectively prevent the onset of hereditary angioedema, patients are well tolerated.