VIDEO: Advances in understanding hereditary angioedema with normal C1 inhibitor

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We know hereditary angioedema is a genetic condition. That's obviously where the name comes from, and most people with HAE as we call it, have C1 inhibitor deficiency, which is type one and type two HAE. This is caused by mutations in the gene called SERPING1. And so that universe of different mutations that cause that type of HAE continues to expand. We get more and more every year, I think we're up over 900 or something now, different mutations that have been described in people with C1 inhibitor deficiency. What's mostly new is finding other mutations or other genes that may be involved in causing or controlling angioedema.

And this is the condition called HAE with normal C1 inhibitor. I think of it as the next frontier in hereditary angioedema. These people have all the signs and symptoms of HAE, but don't have that protein deficiency, C1 inhibitor deficiency. And so a lot of the, I guess breaking literature in HAE and genetics is looking at different mutations or different variants in genes that may cause this angioedema or HAE-like picture.

And we're up to eight different genetic variants or different genes that may cause that factor 12 plasminogen. And there's a list of others, and we continue to look for others because there are lots of people in this group of HAE normal C1 inhibitor where we don't know the underlying genetic cause. So I think expansion of what we already know with type one and type two HAE, but also breaking some new ground and discovering new genetic causes, particularly for folks that have this other form of HAE with normal C1 inhibitor.