Clinical and molecular analysis of Hereditary Angioedema through the study of SERPING1 gene

Abstract

Hereditary Angioedema (HAE) is an autosomal dominant disorder with variable penetrance, which results in inflammatory manifestations of acute subcutaneous or submucosal tissue affecting the skin, the gastrointestinal tract, or the upper airways and can be fatal. The disease comes from the deficiency of C1 inhibitor (C1INH) quantitatively and qualitatively, having three different types of manifestation. The type I HAE is characterized in a quantitative deficiency, in which the antigen and functional level of C1INH is reduced; HAE type II is characterized in a qualitative deficiency, because the antigen levels are normal or even elevated, however, has its activity reduced; the HAE type III has similar clinical symptoms to the previous manifestations of the disease, in which the levels and activity of the antigen are normal, being associated with mutations in the Hageman factor and interactions with estrogen, appearing mainly in women. The C1INH gene, called SERPING1, is located on chromosome 11, has eight exons and approximately 200 mutations have been described as disease-causing. The genetic diagnosis of HAE, contributes to an earlier diagnosis and better treatment for the patient, since in many cases when the disease is underdiagnosed and not treated properly can lead to death.(AU)