Hereditary Angioedema With Normal Levels of C1-Inhibitor

Abstract

Hereditary angioedema refers to life-threatening, orphan diseases and is characterized by recurrent edema in deep dermis of various localization. It is associated with a deficiency or decrease in C1-inhibitor function or does not depend on it. Genetic variants in the SERPING1, FXII, PLG, ANGPT1, KNG1, MYOF, and HS3ST6 genes lead to hereditary angioedema. Some of these genes are involved in the metabolism of bradykinin, others influence the permeability of the endothelium. In total, we identified 1078 articles, 40 of which are included in the review. This review emphasizes the importance of further research of the molecular features of these diseases and, treatment.