Understanding Hereditary Angioedema: Causes, Symptoms, and Management

Staff
By Staff
2 Min Read
Hereditary angioedema occurs as a result of a genetic change. The mechanism of an HAE attack varies depending on which genetic change you have.
There are two known mutations — in the SERPING1 gene and the F12 gene — but scientists suspect there are also other as yet unidentified genes that cause HAE. The type of treatment you are prescribed will be influenced by which genetic change you carry.

Changes in the SERPING1 Gene Cause HAE Types 1 and 2

Changes in the C1NH gene, also known as the SERPING1 gene, cause type 1 and type 2 HAE.

The SERPING1 gene tells the body how to make a protein called C1 inhibitor, which is important for controlling swelling.
In type 1 HAE, your body does not make enough C1 inhibitor. With type 2, your body makes enough of the protein, but it doesn’t work properly.
Without normal and functional amounts of C1 inhibitor, the body generates too much bradykinin — a protein peptide. Bradykinin causes excessive fluid to leak through the walls of body tissues, which leads to inflammation and episodes of swelling.

Changes in the F12 Gene Cause HAE Type 3

Type 3 HAE is an extremely rare form of the disease, and the exact prevalence isn’t known. Scientists believe that some cases of type 3 HAE are caused by changes in the F12 gene.
In type 3 HAE, C1 inhibitor levels and functioning are normal, but the F12 changes cause dysregulation in the bodily system that makes a protein called coagulation factor XII, which plays a role in stimulating inflammation and producing bradykinin.
Other cases of type 3 HAE have no known causes. Researchers believe unidentified genes play a role.

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