REDES SOCIAIS
Revista Científica da Ordem dos Médicos
Hereditary angioedema (HAE), a rare and underdiagnosed condition characterized by recurrent episodes of mucocutaneous swelling, can lead to poor outcomes.1,2 SERPING1 gene mutations dictate quantitative and qualitative changes of serum C1 inhibitor (C1-INH) in HAE type 1 and 2, respectively. Another less prevalent HAE subtype presents with a similar phenotype but normal complement levels (HAE-N) and can arise from different mutations, namely in coagulation factor XII (FXII) gene.3
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