Allergol Immunopathol (Madr) 2021 1;49(4):1-3. Epub 2021 Jul 1.
Clinical Immunology, Reference Center for Rare Diseases, Faculdade de Medicina do ABC, Santo Andre, SP, Brazil.
Hereditary angioedema (HAE) is an autosomal dominant disease, characterized by edema attacks resulting from quantitative and/or functional deficiency of the C1 inhibitor (C1-INH), which acts in controlling the complement, coagulation, fibrinolysis, and contact systems. The exacerbation of these systems results in decreased circulating levels of kallikrein and conversion of bradykinin. In addition, thrombophilia is related to the deficiency of methylenetetrahydrofolate reductase (MTHFR) enzyme, causing an increase in homocysteine, accumulation of atheromatous plaques, and arterial and venous thrombosis. Read More