Advances in the Pathogenesis of Hereditary Angioedema
Hereditary angioedema(HAE)is a rare,unpredictable,autosomal dominant disorder char-acterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding comple-ment 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factorⅫ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.Moreover,different pathogenic variants have different mechanisms in causing HAE.In addition,the patho-genic genes of some patients remain unknown.This review summarizes the recent progress in the classification,epidemiology,pathophysiology,and pathogenesis of HAE,aiming to provide ideas for further fundamental re-search,clinical diagnosis,and drug development of HAE.
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