{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T16:30:11Z","timestamp":1793118611047,"version":"4.5.0"},"reference-count":19,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,10,6]]},"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:p>A female in early childhood presented with 6 months of transient swelling of multiple areas of her body, often, but not always, associated with minor trauma. Labs drawn were significant for low C4, low CH50, low C1 esterase inhibitor (C1-INH) antigen and low C1-INH function, which is concerning for hereditary angioedema (HAE) with abnormal C1-INH. Genetic testing through the Invitae Hereditary Angioedema Panel revealed a variant in the <jats:italic>SERPING1<\/jats:italic> gene, c.686-7C&gt;G (Intronic), which was classified as a variant of unknown significance, but is likely pathogenic given patient\u2019s clinical presentation and recent functional proof of pathogenicity. HAE should be recognised in paediatric patients even without family history. Recognising the symptoms of HAE and confirming diagnosis in early childhood has become more important recently as the first prophylactic therapy, lanadelumab, was approved in February 2023 for long-term prophylaxis in early childhood, which can significantly improve morbidity and quality of life.<\/jats:p>","DOI":"10.1136\/bcr-2023-257212","type":"journal-article","created":{"date-parts":[[2023,11,3]],"date-time":"2023-11-03T11:45:29Z","timestamp":1699011929000},"page":"e257212","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Pathogenic variant in <i>SERPING1<\/i> gene causing autosomal dominant hereditary angioedema in early childhood"],"prefix":"10.1136","volume":"16","author":[{"given":"Kevin","family":"Kron","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shyam","family":"Joshi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Oregon Health & Science University, Portland, Oregon, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,11,3]]},"reference":[{"key":"2025082800524652000_16.11.e257212.1","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1097\/PEC.0000000000002402","article-title":"Recognition, evaluation, and management of pediatric hereditary angioedema","volume":"37","author":"Krack","year":"2021","journal-title":"Pediatr Emerg Care"},{"key":"2025082800524652000_16.11.e257212.2","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.jaip.2020.08.046","article-title":"US HAEA medical advisory board 2020 guidelines for the management of hereditary angioedema","volume":"9","author":"Busse","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2025082800524652000_16.11.e257212.3","first-page":"S292","article-title":"Severity of hereditary angioedema, prevalence, and diagnostic considerations","volume":"24","author":"Bernstein","year":"2018","journal-title":"Am J Manag Care"},{"key":"2025082800524652000_16.11.e257212.4","doi-asserted-by":"crossref","unstructured":"Bork K . 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