Hereditary Angioedema is a rare genetically determined illness, occuring in about 1/10,000 to 1/50,000 individuals. Unless properly treated the mortality rate is high as 20-30%. HAE appears ussually in childhood and clinically is characterized by subcutaneous, gastrointestinal and respiratory symptoms. The disease is caused by the absence or functional deficiency of C1 inhibitor esterase (C1-INH), an enzyme of the complement system. The genetic defect responsible for the illness is inherited. A child has a 50 percent chance of inheriting HAE if one of the parents has the disease however, the absence of family history does not rule out the diagnosis.
Last update: 08.25.2009