{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T13:14:58Z","timestamp":1777122898564,"version":"3.51.4"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,19]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Hereditary angio-oedema (HAE) is a rare genetic disease characterised by repeated episodes of temporary organ swelling. Three types of HAE are known, of which HAE with normal C1 inactivator is difficult to be diagnosed due to its lack of laboratory abnormalities. Here, we describe a case of HAE with normal C1 inactivator and recurrent acute abdomen following low-dose oestrogen\u2013progestin therapy. Notably, genetic analysis by Sanger sequencing led to the identification of a recurrent heterozygous missense mutation c.988A\u2009&amp;gt;\u2009G (p.K330E) in the plasminogen (PLG) gene of the patient. Prophylactic tranexamic acid and on-demand selective bradykinin B2 receptor blockers are used to treat her symptoms.<\/jats:p>","DOI":"10.1093\/mrcr\/rxad017","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T15:10:08Z","timestamp":1678979408000},"page":"491-494","source":"Crossref","is-referenced-by-count":3,"title":["Hereditary angio-oedema with normal C1-INH, developing recurrent acute abdomen after taking low-dose oestrogen\u2013progestin: A case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4990-8752","authenticated-orcid":false,"given":"Tsuyoshi","family":"Nakayama","sequence":"first","affiliation":[{"name":"Department of Rheumatology, Japanese Red Cross Yamaguchi Hospital , Yamaguchi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Tamimoto","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Japanese Red Cross Yamaguchi Hospital , Yamaguchi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yamaguchi University Graduate School of Medicine , Ube, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Tsukamoto","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Shin-Kokura Hospital , Kitakyushu, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,3,16]]},"reference":[{"key":"2023061920013054700_R1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/0002-9343(63)90162-1","article-title":"A biochemical abnormality in hereditary angioneurotic edema Absence of serum inhibitor of C\u20321-esterase","volume":"35","author":"Donaldson","year":"1963","journal-title":"Am J Med"},{"key":"2023061920013054700_R2","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1001\/archinte.161.20.2417","article-title":"Hereditary angioedema: a broad review for clinicians","volume":"161","author":"Nzeako","year":"2001","journal-title":"Arch Intern Med"},{"key":"2023061920013054700_R3","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1067\/mai.2000.108106","article-title":"Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema","volume":"106","author":"Binkley","year":"2000","journal-title":"J Allergy Clin Immunol"},{"key":"2023061920013054700_R4","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1097\/00000441-188804000-00004","article-title":"Hereditary angio-neurotic oedema","volume":"95","author":"Osler","year":"1888","journal-title":"Am J Med Sci"},{"key":"2023061920013054700_R5","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1172\/JCI112610","article-title":"Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor-deficient patients","volume":"78","author":"Zuraw","year":"1986","journal-title":"J Clin Invest"},{"key":"2023061920013054700_R6","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.amjmed.2007.08.021","article-title":"Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course","volume":"120","author":"Bork","year":"2007","journal-title":"Am J Med"},{"key":"2023061920013054700_R7","doi-asserted-by":"crossref","first-page":"441","DOI":"10.2500\/aap.2019.40.4267","article-title":"Hereditary and acquired angioedema","volume":"40","author":"Patel","year":"2019","journal-title":"Allergy Asthma Proc"},{"key":"2023061920013054700_R8","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S0140-6736(00)02483-1","article-title":"Hereditary angioedema with normal C1-inhibitor activity in women","volume":"356","author":"Bork","year":"2000","journal-title":"Lancet"},{"key":"2023061920013054700_R9","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/j.bbrc.2006.03.092","article-title":"Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor","volume":"343","author":"Dewald","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"2023061920013054700_R10","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.jaci.2017.05.020","article-title":"Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema","volume":"141","author":"Bafunno","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"2023061920013054700_R11","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1111\/all.13270","article-title":"Hereditary angioedema with a mutation in the plasminogen gene","volume":"73","author":"Bork","year":"2018","journal-title":"Allergy"},{"key":"2023061920013054700_R12","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1111\/all.13869","article-title":"Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin","volume":"74","author":"Bork","year":"2019","journal-title":"Allergy"},{"key":"2023061920013054700_R13","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1182\/blood.2021012945","article-title":"A mechanism for hereditary angioedema caused by a lysine 311-to-glutamic acid substitution in plasminogen","volume":"139","author":"Dickeson","year":"2022","journal-title":"Blood"},{"key":"2023061920013054700_R14","first-page":"215","article-title":"Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes","volume":"18","author":"Bork","year":"2020","journal-title":"J Dtsch Dermatol Ges"},{"key":"2023061920013054700_R15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-020-01570-x","article-title":"Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence","volume":"15","author":"Bork","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2023061920013054700_R16","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/j.1538-7836.2008.03220.x","article-title":"New insights into the molecular mechanisms of the fibrinolytic system","volume":"7","author":"Rijken","year":"2009","journal-title":"J Thromb Haemost"},{"key":"2023061920013054700_R17","doi-asserted-by":"crossref","DOI":"10.1016\/j.intimp.2020.106293","article-title":"Changes of coagulation parameters during erythema marginatum in patients with hereditary angioedema","volume":"81","author":"K\u0151halmi","year":"2020","journal-title":"Int Immunopharmacol"},{"key":"2023061920013054700_R18","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.jaci.2009.07.017","article-title":"Efficacy of human C1 esterase inhibitor concentrate compared with placebo in acute hereditary angioedema attacks","volume":"124","author":"Craig","year":"2009","journal-title":"J Allergy Clin Immunol"},{"key":"2023061920013054700_R19","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1111\/all.12303","article-title":"Open-label, multicenter study of self-administered icatibant for attacks of hereditary angioedema","volume":"69","author":"Aberer","year":"2014","journal-title":"Allergy"},{"key":"2023061920013054700_R20","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/cia2.12029","article-title":"The use of tranexamic acid for on-demand and prophylactic treatment of hereditary angioedema\u2014a systematic review","volume":"1","author":"Horiuchi","year":"2018","journal-title":"J Cutan Immunol Allergy"},{"key":"2023061920013054700_R21","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1111\/all.15011","article-title":"Long-term prevention of hereditary angioedema attacks with lanadelumab: the HELP OLE Study","volume":"77","author":"Banerji","year":"2022","journal-title":"Allergy"},{"key":"2023061920013054700_R22","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1111\/all.13543","article-title":"Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: three additional French families","volume":"73","author":"Belb\u00e9zier","year":"2018","journal-title":"Allergy"},{"key":"2023061920013054700_R23","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1111\/all.13550","article-title":"A missense mutation of the plasminogen gene in hereditary angioedema with normal C1 inhibitor in Japan","volume":"73","author":"Yakushiji","year":"2018","journal-title":"Allergy"}],"container-title":["Modern Rheumatology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/mrcr\/advance-article-pdf\/doi\/10.1093\/mrcr\/rxad017\/49688718\/rxad017.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/mrcr\/article-pdf\/7\/2\/491\/50646439\/rxad017.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/mrcr\/article-pdf\/7\/2\/491\/50646439\/rxad017.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T20:06:27Z","timestamp":1687205187000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/mrcr\/article\/7\/2\/491\/7078904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,16]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,3,16]]},"published-print":{"date-parts":[[2023,6,19]]}},"URL":"https:\/\/doi.org\/10.1093\/mrcr\/rxad017","relation":{},"ISSN":["2472-5625"],"issn-type":[{"value":"2472-5625","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,7,1]]},"published":{"date-parts":[[2023,3,16]]}}}