Not real patients.
If one parent has HAE, the child has a 50% chance of inheriting HAE.
The child could inherit one of four possible C1 esterase gene outcomes at conception.
Since the gene responsible for HAE is a dominant gene, the child only needs one mutated gene from one parent to inherit the HAE condition.
Therefore, if one parent has HAE, the child has a 50% chance of inheriting HAE and a 50% chance of not inheriting HAE.
If the child does inherit HAE, his or her children will also have a 50% chance of inheriting the condition.
If the child does not inherit HAE, he or she will not have HAE or pass on HAE to his or her own children.
It's important to remember that, although HAE is considered a genetic disorder, 25% of HAE patients do not have any family history of the disease because the mutation is new, or spontaneous.
Most people with HAE either don't have enough of a protein called C1 esterase inhibitor (C1-INH), or the protein doesn't work properly. This deficiency or dysfunction can lead to episodes of swelling. These two causes can be classified as Type 1 or Type 2.
Type 1 is the most common and caused by having too little C1-INH circulating in the blood.
Type 2 means a person's body makes enough C1-INH, but the protein doesn't work as it should.
CINRYZE (C1 esterase inhibitor [human]) was the first preventive therapy indicated to help prevent HAE attacks in children (6 to 12 years old).
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