{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:26:42Z","timestamp":1777444002398,"version":"3.51.4"},"reference-count":11,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,4,17]]},"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Hereditary angioedema (HAE) is a genetic disorder that causes sudden episodes of swelling, often accompanied by abdominal pain. Affecting roughly 1 in 50\u2009000 people, HAE typically appears in childhood. The condition stems from a deficiency or dysfunction of C1-esterase inhibitor (C1-INH), which triggers uncontrolled inflammation. Diagnosis depends on factors level and function. Treatment focuses on managing acute attacks and preventing future episodes using medications such as C1-INH replacement among other options. In this case, a middle childhood boy experienced severe abdominal pain and vomiting. A detailed family history revealed a pattern of HAE among relatives. Lab results confirmed Type 1 HAE. Acute treatment with Berinert was successful, and the patient was later placed on long-term prophylaxis with lanadelumab, which is a monoclonal antibody that inhibits Kallikrein. This case illustrates the importance of considering HAE in children with unexplained abdominal symptoms, particularly in the context of a family history of the condition. Early identification and treatment are essential to managing this life-threatening disorder.<\/jats:p>","DOI":"10.1136\/bcr-2024-263989","type":"journal-article","created":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T09:45:12Z","timestamp":1751708712000},"page":"e263989","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary angioedema in a paediatric patient presenting with abdominal pain and duodenal dilation"],"prefix":"10.1136","volume":"18","author":[{"given":"Mawada","family":"Abbaker","sequence":"first","affiliation":[{"name":"Pediatric, Hurley Medical Centre, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaseen","family":"Rafe\u2019e","sequence":"additional","affiliation":[{"name":"Hurley Medical Centre, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"Zamir","sequence":"additional","affiliation":[{"name":"Hurley Medical Centre, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurbaksh","family":"Esch","sequence":"additional","affiliation":[{"name":"Hurley Medical Centre, Flint, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,5]]},"reference":[{"key":"2025082712260045000_18.7.e263989.1","doi-asserted-by":"crossref","first-page":"701","DOI":"10.2147\/TCRM.S86293","article-title":"Diagnosis and screening of patients with hereditary angioedema in primary care","volume":"12","author":"Henao","year":"2016","journal-title":"Ther Clin Risk Manag"},{"key":"2025082712260045000_18.7.e263989.2","doi-asserted-by":"crossref","unstructured":"Bork K , Barnstedt SE . explored a variant of HAE with normal C1-inhibitor activity, particularly in women. The Lancet 2000;213\u20137.","DOI":"10.1016\/S0140-6736(00)02483-1"},{"key":"2025082712260045000_18.7.e263989.3","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1001\/archinte.161.20.2417","article-title":"offered a broad clinical review of HAE","volume":"61","author":"Nzeako","year":"2001","journal-title":"Arch Intern Med"},{"key":"2025082712260045000_18.7.e263989.4","doi-asserted-by":"crossref","unstructured":"Tarzi MD , Hickey A , F\u00f6rster T , et al . evaluated diagnostic tests for C1 inhibitor deficiency, emphasizing that normal C4 does not rule out HAE. Clin Exp Immunol 2007. doi:10.1111\/j.1365-2249.2007.03438.x","DOI":"10.1111\/j.1365-2249.2007.03438.x"},{"key":"2025082712260045000_18.7.e263989.5","doi-asserted-by":"crossref","unstructured":"an extensive group of coauthors reported on a nationwide Italian survey of HAE due to C1 inhibitor deficiency. Orphanet J Rare Dis 2015. doi:10.1186\/s13023-015-0233-x","DOI":"10.1186\/s13023-015-0233-x"},{"key":"2025082712260045000_18.7.e263989.6","doi-asserted-by":"crossref","unstructured":"Bhardwaj N , Craig TJ . reviewed current treatments for HAE. Transfusion 2014. doi:10.1111\/trf.12674","DOI":"10.1111\/trf.12674"},{"key":"2025082712260045000_18.7.e263989.7","doi-asserted-by":"crossref","unstructured":"Ghazi A , Grant JA . reviewed the epidemiology and management of HAE, including the role of icatibant. Biologics: Targets and Therapy 2013. doi:10.2147\/BTT.S27566","DOI":"10.2147\/BTT.S27566"},{"key":"2025082712260045000_18.7.e263989.8","doi-asserted-by":"crossref","unstructured":"Sabharwal G , Craig T . Pediatric hereditary angioedema: an update. F1000Res 2017;6. doi:10.12688\/f1000research.11320.1","DOI":"10.12688\/f1000research.11320.1"},{"key":"2025082712260045000_18.7.e263989.9","article-title":"authored a recent clinical overview of HAE","volume":"15","author":"Banerjee","year":"2023","journal-title":"Cureus"},{"key":"2025082712260045000_18.7.e263989.10","doi-asserted-by":"crossref","first-page":"42","DOI":"10.5582\/irdr.2020.03099","article-title":"proposed a diagnostic threshold for C1-INH function in the context of HAE","volume":"10","author":"Honda","year":"2021","journal-title":"Intractable Rare Dis Res"},{"key":"2025082712260045000_18.7.e263989.11","unstructured":"Abdulkarim A , Craig TJ . Contributed a continuously updated overview of hae. In: StatPearls. Treasure Island (FL): StatPearls Publishing, 2024."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-263989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:26:08Z","timestamp":1756322768000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-263989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,7,5]]},"published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1136\/bcr-2024-263989"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-263989","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}