ISSN : 2146-3123
E-ISSN : 2146-3131

Pathophysiology and underlying mechanisms in Hereditary Angioedema
Alberto López Lera1
1Centre for Biomedical Network Research on Rare Diseases (CIBERER) U-754 at Hospital La Paz Institute for Health Research (IdiPaz), Madrid, Spain
DOI : 10.4274/balkanmedj.galenos.2020.2020.10.166

This review aims to summarize the main pathophysiological events involved in the development of Hereditary Angioedema (HAE, OMIM#106100). HAE is a rare genetic disease inherited in an autosomal dominant manner and caused by a loss of control over the plasma contact (CAS) or kallikrein-kinin (KKS) system, which results in unrestrained bradykinin (BK) generation or signalling. In HAE patients, BK binding to endothelial cells leads to recurrent episodes of swelling at subcutaneous or submucosal tissues that can be life-threatening when affecting the upper respiratory tract. The disease can either present with hypocomplementemia due to the presence of pathogenic variants in the gene encoding C1-Inhibitor (HAE-C1INH) or with normocomplementemia and associate with elevated estrogen levels, due to gain-offunction variants in the genes encoding coagulation proteins involved in the KKS (namely, coagulation FXII (HAE-FXII), plasminogen (HAE-PLG) and high molecular weight kininogen (HAE-KNG1)). Moreover in recent years, novel pathogenic variants have been described in the genes encoding angiopoyetin 1 (HAE-ANGPT1) and myoferlin (HAE-MYOF) which further expand the pathophysiological picture of HAE.

Keywords : Hereditary angioedema, rare diseases, bradykinin, inflammation

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