Ohsawa Isao, Honda Daisuke, Hisada Atsuko, Inoshita Hiroyuki, Onda-Tsueshita Kisara, Mano Satoshi, Sato Nobuyuki, Nakamura Yuya, Shimizu Tatsuo, Gotoh Hiromichi, Goto Yoshikazu, Suzuki Yusuke, Tomino Yasuhiko
Nephrology Unit, Saiyu Soka Hospital, Japan.
Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Japan.
Intern Med. 2018 Feb 1;57(3):319-324. doi: 10.2169/internalmedicine.8624-16. Epub 2017 Nov 1.
Objective The present study was designed to identify the clinical characteristics that permit the differential diagnosis of hereditary angioedema (HAE) and mast cell-mediated angioedema (Mast-AE) during the first consultation. Methods The medical histories and laboratory data of 46 patients with HAE and 41 patients with Mast-AE were compared. Results The average age of onset in the HAE group (19.8±9.0 years) was significantly lower than that in the Mast-AE group (35.2±12.0 years). The incidence of familial angioedema (AE) in the HAE group (73.9%) was significantly higher than that in the Mast-AE group (9.7%). The frequency of history of AE in the extremities, larynx, or gastrointestinal tract was significantly higher in the HAE group. The frequency of AE episodes of the lips and eyelids was significantly lower in the HAE group. The serum C4 concentration and CH50 titer were lower than the normal limit in 91.3% and 45.6% of the patients in the HAE group, respectively; in Mast-AE group the serum C4 concentration and CH50 titer were significantly lower than the normal limit in 4.8% and 0% of the patients, the difference between the two groups was statistically significant. A C1-inhibitor (C1-INH) activity level of <50% was observed in all of the HAE patients, but none of the Mast-AE patients. The mean serum IgE titer in the HAE group (120.8±130.5 IU/mL) was significantly lower than that in the Mast-AE group (262.2±314.9 IU/mL). Conclusion The parameters within the patients' medical histories, such as the age at the onset of AE, a family history of AE, and the locations of past AE episodes are critical for the successful diagnosis of the disease. Measurements of the C4 and C1-INH activity are very useful for differential diagnosis of HAE from Mast-AE.
目的 本研究旨在确定在首次会诊时能够鉴别遗传性血管性水肿（HAE）和肥大细胞介导的血管性水肿（Mast-AE）的临床特征。方法 比较46例HAE患者和41例Mast-AE患者的病史及实验室数据。结果 HAE组的平均发病年龄（19.8±9.0岁）显著低于Mast-AE组（35.2±12.0岁）。HAE组家族性血管性水肿（AE）的发生率（73.9%）显著高于Mast-AE组（9.7%）。HAE组四肢、喉部或胃肠道AE病史的频率显著更高。HAE组嘴唇和眼睑AE发作的频率显著更低。HAE组分别有91.3%和45.6%的患者血清C4浓度和CH50滴度低于正常范围；在Mast-AE组中，分别有4.8%和0%的患者血清C4浓度和CH50滴度显著低于正常范围，两组之间的差异具有统计学意义。所有HAE患者的C1抑制物（C1-INH）活性水平均<50%，但Mast-AE患者均未出现这种情况。HAE组的平均血清IgE滴度（120.8±130.5 IU/mL）显著低于Mast-AE组（262.2±314.9 IU/mL）。结论 患者病史中的参数，如AE发病年龄、AE家族史以及既往AE发作部位，对于疾病的成功诊断至关重要。C4和C1-INH活性的检测对于HAE与Mast-AE的鉴别诊断非常有用。
