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Hereditary Angioedema (HAE) is an autosomal dominant genetic disorder (GOKMAN, 2020; KRUK, 2020). It is a rare disease and characterized by recurrent edema that can reach deep layers of the skin and other organs (GIAVINA-BIANCHI, 2017; WILKERSON, 2022). Five mutations involving HAE have been described in patients with C1-INH deficiency or dysfunction, the SERPING1 gene mutation is described, and patients with normal C1INH, mutations involving the F12, ANGPT1, PLG, KNG1 genes are described , MYOF and HS3ST6. (BAFFUNO, 2018; BORK, 2017; BORK, 2019, YAKUSHIJI, 2018; BELBEZIER, 2018; NICOLA, 2019, VERONEZ, 2021; SACRALOSE; 2021). Its etiology is described by the absence of the C1 esterase inhibitor (C1-INH), and it can be considered an immunological and inflammatory disease. Identified by its regulatory activity in the complement system, C1-INH is an inhibitor of plasmatic serine protease (Serping), controlling the complement pathway, through the inhibition of C1r, C1s, MASP1, MASP2; the contact system, by inhibiting factor XII and plasma kallikrein; the intrinsic coagulation cascade, through the inhibition of factor XI and thrombin; and, the fibrinolytic system, through inhibition of plasmin and tissue plasminogen activator, its deficiency causes an increase in bradykinin production (BRODSZKI, 2020; GIAVINA-BIANCHI, 2017; CSUKA, 2017;KRUK, 2019). Bradykinin, the main mediator of HAE, binds to the B2 receptor expressed on endothelial cells. It is a non-peptide quinine formed from high molecular weight kininogen by the action of plasma kallikrein. Bradykinin is a very powerful vasodilator that increases vascular permeability inducing edema, it also contracts smooth muscle and stimulates pain receptors. As it is a genetic disease, treatment strategies focus on reversal, crisis prevention, reduction of morbidity and mortality and improvement of quality of life for patients and their families. There are two treatment approaches: treatment of acute attacks and prophylactic treatment, both short-term and long-term (ZANICHELLI, 2018; RODRIGUES, 2018). |
