Hereditary angioedema with normal C1Inh
Synonyms: HAE with normal C1 inhibitor | HAE with normal C1Inh | Hereditary angioedema with normal C1 inhibitor | Hereditary angioneurotic edema with normal C1 inhibitor | Hereditary angioneurotic edema with normal C1Inh
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin severe abdominal symptoms such as pain and swelling and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors especially in patients with a factor XII mutation.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Hereditary angioedema with normal C1Inh?
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