Shrestha Swarup, Yadav Ajay K, Khadka Dibas, Shrestha Ramila, Paudel Mukesh S
Department of Gastroenterology, Bir Hospital, National Academy for Medical Sciences (NAMS), Kathmandu, NPL.
Cureus. 2025 May 29;17(5):e85019. doi: 10.7759/cureus.85019. eCollection 2025 May.
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of angioedema that can affect the skin, gastrointestinal tract, and upper respiratory tract. Angioedema of the gastrointestinal tract can manifest as recurrent episodes of abdominal pain, which can often be misdiagnosed as a functional bowel disorder, a neuropsychiatric condition, or even an acute abdomen, which may result in unnecessary investigations and treatment, including surgeries. Angioedema of the skin can present as non-pitting swelling in the limbs and face. In contrast, when the respiratory tract is involved, it can sometimes lead to laryngeal edema, which can be life-threatening if not treated promptly. Diagnosing HAE can be particularly difficult for individuals without a family history of the condition. We present the case of a 30-year-old female patient who was diagnosed with HAE two decades after her initial symptoms appeared, which caused her significant suffering during that time without any targeted therapy. After her diagnosis, she received treatment with a plasma-derived C1-esterase inhibitor (C1-INH), which successfully decreased the frequency and severity of her symptoms and thus alleviated her suffering.
遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其特征是血管性水肿反复发作，可累及皮肤、胃肠道和上呼吸道。胃肠道血管性水肿可表现为反复发作的腹痛，常被误诊为功能性肠病、神经精神疾病，甚至急腹症，这可能导致不必要的检查和治疗，包括手术。皮肤血管性水肿可表现为四肢和面部的非凹陷性肿胀。相比之下，当呼吸道受累时，有时会导致喉水肿，如果不及时治疗，可能会危及生命。对于没有该病家族史的个体来说，诊断HAE可能特别困难。我们报告一例30岁女性患者，她在出现初始症状二十年后被诊断为HAE，在此期间，由于没有任何针对性治疗，她遭受了巨大痛苦。诊断后，她接受了血浆源性C1酯酶抑制剂（C1-INH）治疗，成功降低了症状的发作频率和严重程度，从而减轻了她的痛苦。
