Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
Clinical and Laboratory Characteristics That Differentiate Hereditary Angioedema in 72 Patients with Angioedema
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DOI：
10.2332/allergolint.14-oa-0700
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发表时间：
2014-12-01
影响因子：
6.8
通讯作者：
Tomino, Yasuhiko
中科院分区：
文献类型：
--
作者：
Ohsawa, Isao;Honda, Daisuke;Tomino, Yasuhiko
背景：遗传性血管性水肿（HAE）是一种罕见但危及生命的疾病，由C1抑制剂（C1-INH）突变引起。由于区分HAE从其他原因的血管性水肿（AE）是一个关键的问题，在紧急情况下，本研究的目的是澄清HAE和其他形式的AES.Methods之间的差异：72例AE患者参加了这项研究。结果：HAE患者23例，肥大细胞介导的AE患者33例，药物性AE患者5例，特发性AE患者11例。HAE发作的平均年龄（19.5 ± 8.0岁）显著低于其他组。在82.6%的HAE患者中观察到AE家族史，显著高于其他组。在大多数（60 - 80%）HAE患者中观察到影响四肢和胃肠道（GI）的肿胀。在30.4%的HAE患者中观察到危及生命的喉水肿。95.6%的HAE患者血清C4水平低于正常范围的下限。在我们的科目，低C4 HAE的敏感性和特异性分别为95.6%和93.8%，force.Conclusions：早期发病的AE，阳性家族史，复发AE在四肢和胃肠道，窒息是HAE的独特特征。低血清C4水平是HAE鉴别诊断的有用标志物。
Background: Hereditary angioedema (HAE) is a rare but life-threatening condition that results from mutations in C1-inhibitor (C1-INH). Since distinguishing HAE from other causes of angioedema (AE) is a critical problem in emergencies, the objective of the present study was to clarify the differences between HAE and other forms of AE.Methods: Seventy-two patients with AE were enrolled in this study. The medical history and laboratory data of patients with HAE at the first visit were compared to those with other types of AE.Results: Subjects included 23 patients with HAE, 33 with mast cell-mediated AE, 5 with drug-induced AE and 11 with idiopathic AE. The average age of HAE onset (19.5 +/- 8.0 years old) was significantly lower than in other groups. A family history of AE was noted in 82.6% of HAE patients, which was significantly higher than other groups. Swelling affecting the extremities and gastrointestinal (GI) tract was observed in the majority (60 to 80%) of HAE patients. Life threatening laryngeal edema was observed in 30.4% of HAE patients. In 95.6% of HAE patients serum levels of C4 were less than the lower limit of the normal range. In our subjects, the sensitivity and specificity of low C4 for HAE were 95.6% and 93.8%, respectively.Conclusions: Early onset of AE, positive family history, recurrent AE in the extremities and GI tract, and suffocation are distinctive characteristics of HAE. A low serum level of C4 is a useful marker for making a differential diagnosis of HAE.