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遗传性血管性水肿表现为孤立的升结肠和横结肠肿胀,酷似急腹症。

Hereditary angioedema presented as isolated ascending and transverse colon swelling mimicking acute abdomen.

作者信息

Marrawani Mohammad, Alatawneh Mustafa, Asafra Fouad, Salloum Omar H, Abuayash Ahmad M, Samamra Mosab

机构信息

Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.

Hebron Governmental Hospital (Alia), Hebron, Palestine.

出版信息

SAGE Open Med Case Rep. 2024 Aug 31;12:2050313X241272574. doi: 10.1177/2050313X241272574. eCollection 2024.

DOI:10.1177/2050313X241272574
PMID:39224758
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11367591/
Abstract

Hereditary angioedema (HAE) is a rare autosomal dominant condition characterized by C1-INH gene mutations, leading to recurrent angioedema episodes affecting various body parts, including the gastrointestinal tract. This case report describes a 24-year-old female presenting with symptoms mimicking an acute abdomen, characterized by severe abdominal cramps, anorexia, and diarrhea, with a significant past medical history of angioedema flares and emergency intubation for asphyxiation at age 11. Despite initial treatment with antihistamines showing no improvement, her symptoms spontaneously resolved. Further investigation revealed low complement C4 levels and reduced C1-INH function, confirming HAE with an unusual isolated involvement of the ascending and transverse colon. This case underscores the importance of considering HAE in patients presenting with acute abdominal symptoms, especially with a history suggestive of angioedema. It highlights the need for emergency physicians and gastroenterologists to be aware of HAE's clinical manifestations to avoid misdiagnosis and unnecessary interventions. Moreover, the case emphasizes the significance of patient education on recognizing symptoms and seeking timely medical attention to prevent severe complications. This report adds to the existing literature by detailing an uncommon presentation of HAE, aiming to enhance early diagnosis and management of this potentially life-threatening condition.

摘要

遗传性血管性水肿(HAE)是一种罕见的常染色体显性疾病,其特征为C1-INH基因突变,导致反复发作的血管性水肿,累及包括胃肠道在内的身体各个部位。本病例报告描述了一名24岁女性,表现出类似急腹症的症状,其特征为严重腹痛、厌食和腹泻,既往有血管性水肿发作史,11岁时因窒息接受紧急插管。尽管最初使用抗组胺药治疗无改善,但她的症状自行缓解。进一步检查发现补体C4水平降低和C1-INH功能减退,确诊为HAE,且升结肠和横结肠出现罕见的孤立受累。本病例强调了在出现急性腹部症状的患者中考虑HAE的重要性,尤其是有血管性水肿病史提示的患者。它凸显了急诊医生和胃肠病学家了解HAE临床表现以避免误诊和不必要干预的必要性。此外,该病例强调了患者教育在识别症状和及时就医以预防严重并发症方面的重要性。本报告通过详细描述HAE的罕见表现,为现有文献增添了内容,旨在加强对这种潜在危及生命疾病的早期诊断和管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7494/11367591/e61eb172664d/10.1177_2050313X241272574-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7494/11367591/2a6851ef494c/10.1177_2050313X241272574-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7494/11367591/e61eb172664d/10.1177_2050313X241272574-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7494/11367591/2a6851ef494c/10.1177_2050313X241272574-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7494/11367591/e61eb172664d/10.1177_2050313X241272574-fig2.jpg

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本文引用的文献

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Challenges in the management of hereditary angioedema in urban and rural settings: Results of a United States survey.城乡环境下遗传性血管性水肿管理面临的挑战:美国调查结果。
Ann Allergy Asthma Immunol. 2023 Jun;130(6):760-767.e3. doi: 10.1016/j.anai.2023.03.005. Epub 2023 Mar 12.
2
Intestinal Angioedema: A Mimic of an Acute Abdomen.肠道血管性水肿:急性腹痛的一种模仿病症。
Cureus. 2023 Feb 4;15(2):e34619. doi: 10.7759/cureus.34619. eCollection 2023 Feb.
3
Abdominal and pelvic imaging in the diagnosis of acute abdominal attacks in patients with hereditary angioedema due to C1-inhibitor deficiency.
腹部和盆腔成像在诊断C1抑制剂缺乏所致遗传性血管性水肿患者急性腹痛发作中的应用
Postepy Dermatol Alergol. 2022 Aug;39(4):749-756. doi: 10.5114/ada.2021.108438. Epub 2021 Aug 13.
4
Angioedema with severe acute abdominal pain: Think of hereditary angioedema.伴有严重急性腹痛的血管性水肿:要考虑遗传性血管性水肿。
Clin Res Hepatol Gastroenterol. 2021 Jul;45(4):101702. doi: 10.1016/j.clinre.2021.101702. Epub 2021 Apr 14.
5
Recurrent and acute abdominal pain as the main clinical manifestation in patients with hereditary angioedema.遗传性血管性水肿患者以反复发作性和急性腹痛为主要临床表现。
Allergy Asthma Proc. 2021 Mar 1;42(2):131-135. doi: 10.2500/aap.2021.42.210001.
6
Biological therapy in hereditary angioedema: transformation of a rare disease.遗传性血管性水肿的生物治疗:罕见病的转变。
Expert Opin Biol Ther. 2020 May;20(5):493-501. doi: 10.1080/14712598.2020.1724280. Epub 2020 Mar 19.
7
Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain.II型遗传性血管性水肿:成年期首次表现为反复严重腹痛
Case Reports Immunol. 2018 Oct 29;2018:7435870. doi: 10.1155/2018/7435870. eCollection 2018.
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The physician and hereditary angioedema friend or foe: 62-year diagnostic delay and iatrogenic procedures.医生与遗传性血管性水肿:朋友还是敌人?62年的诊断延误与医源性操作
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Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema.复发性急腹症作为遗传性血管性水肿的主要表现
Intern Med. 2019 Jan 15;58(2):213-216. doi: 10.2169/internalmedicine.1559-18. Epub 2018 Aug 24.
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