Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.

Abstract excerpt

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of HAE exist: type I, type II, and type III. Type I is characterized by a deficiency in C1-INH. C1-INH is important in the coagulation complement, contact systems, and fibrinolysis. Most HAE cases are type I. Type I and II HAE result from a...

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• Angioedemas, Hereditary
• Child
• Child, Preschool
• Coagulation, Bradykinin, Polyphosphates, and Angioedema
• Complement C1 Inhibitor Protein