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Hereditary angioedema with normal C1 inhibitor: Update on evaluation and treatment. [Review]

A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it’s termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.
Copyright © 2017 Elsevier Inc. All rights reserved.

Available from: https://www.sciencedirect.com/science/article/pii/S0889856117300450?via%3Dihub

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