Hereditary angioedema
Hereditary angioedema (HAE) is a disorder caused by a change (mutation) in the genetic information of the affected individual. The mutation affects a gene located on chromosome 11, which is responsible for the synthesis of the C1-esterase inhibitor (C1-INH). C1-INH is an important protein that regulates a variety of metabolic processes in the body. Persons with Hereditary angioedema (HAE) produce either too little C1-INH or a form of C1-INH that does not function correctly. Among other functions, C1-INH acts to prevent the excessive production of bradykinin in association with inflammation, coagulation reactions and other processes in the body. Bradykinin increases the permeability of the blood vessel wall. If the synthesis of bradykinin is not kept within its proper limits by C1-INH, angioedema attacks may occur.
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