Advances in the Pathogenesis of Hereditary Angioedema.
10.3881/j.issn.1000-503X.15915
- Author:
Xiang-Yi CUI
1
;
Yu-Xiang ZHI
1
Author Information
1. Department of Allergy,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
- Publication Type:Review
- Keywords:
C1 esterase inhibitor;
SERPING1 gene;
bradykinin;
hereditary angioedema;
pathogenesis
- MeSH:
Humans;
Angioedemas, Hereditary/diagnosis*;
Angiopoietin-1/metabolism*;
Plasminogen/metabolism*;
Kininogens/metabolism*;
Complement C1 Inhibitor Protein/metabolism*
- From:
Acta Academiae Medicinae Sinicae
2024;46(6):924-931
- CountryChina
- Language:English
-
Abstract:
Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized 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 complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,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 pathogenic 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 research,clinical diagnosis,and drug development of HAE.
