Hereditary angioedema (HAE) was classically thought to be related to a deficiency in the C1 esterase inhibitor (C1-INH). However, HAE with a normal C1 esterase inhibitor (HAE nC1-INH) is a rare disease that has been recently characterized. In this case, we describe a woman with a 21-year history of angioedema who, in the last two years, has experienced severe exacerbations that led to the formal diagnosis of HAE nC1-INH. The patient has been treated with current HAE long-term prophylaxis (LTP) and on-demand therapies but is still experiencing severe, frequent attacks. Our case describes the timeline of this patient's presentation and provides valuable insight into the presentation and management of HAE nC1-INH.
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| http://dx.doi.org/10.7759/cureus.33800 | DOI Listing |
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