{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T23:34:13Z","timestamp":1740180853771,"version":"3.37.3"},"reference-count":24,"publisher":"Consilium Medicum","issue":"12","license":[{"start":{"date-parts":[[2020,12,15]],"date-time":"2020-12-15T00:00:00Z","timestamp":1607990400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Terapevticheskii arkhiv"],"abstract":"<jats:p>Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.<\/jats:p>","DOI":"10.26442\/00403660.2020.12.200447","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T09:12:59Z","timestamp":1612775579000},"page":"86-90","source":"Crossref","is-referenced-by-count":2,"title":["Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level"],"prefix":"10.26442","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8574-6869","authenticated-orcid":false,"given":"A. 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