A rare case of hereditary angioedema with exclusive gastrointestinal symptoms and no cutaneous involvement.

IF 0.8 Q4 GASTROENTEROLOGY & HEPATOLOGY
Xuan Wu, Tengfei Yin, Yanbo Yu
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引用次数: 0

Abstract

We report a case of hereditary angioedema presenting solely with gastrointestinal symptoms, including abdominal pain and bloating. The patient experienced recurrent abdominal pain for 4 years, without any evident clinical features such as skin or mucosal edema. Almost every episode occurred more than 10 days after the conclusion of menstruation. Ultimately, the diagnosis was confirmed through whole-exome sequencing and the evaluation of relevant indicators.

罕见的遗传性血管性水肿病例,仅伴有胃肠道症状,无皮肤受累。
我们报告一例遗传性血管性水肿仅表现为胃肠道症状,包括腹痛和腹胀。患者反复腹痛4年,无明显的皮肤、粘膜水肿等临床表现。几乎每次发作都发生在月经结束后10天以上。最终通过全外显子组测序及相关指标评价确诊。
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来源期刊
Clinical Journal of Gastroenterology
Clinical Journal of Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
2.00
自引率
0.00%
发文量
182
期刊介绍: The journal publishes Case Reports and Clinical Reviews on all aspects of the digestive tract, liver, biliary tract, and pancreas. Critical Case Reports that show originality or have educational implications for diagnosis and treatment are especially encouraged for submission. Personal reviews of clinical gastroenterology are also welcomed. The journal aims for quick publication of such critical Case Reports and Clinical Reviews.
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