Hereditary angioedema with C1Inh deficiency
Synonyms: HAE with C1 inhibitor deficiency | HAE with C1Inh deficiency | Hereditary angioneurotic edema with C1 inhibitor deficiency | Hereditary angioneurotic edema with C1Inh deficiency
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin severe abdominal symptoms such as pain and swelling and/or respiratory distress due to upper respiratory airways involvement. Genital bladder muscle or joint swelling may occur in some cases.
Data from Orphanetare used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version May 2023.
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