Pharmacological approach of Hereditary Angioedema with normal C1 inhibitor (AEHnlC1INH)

• Grant number: 17/06803-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: January 01, 2018
• End date: June 30, 2019
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Anete Sevciovic Grumach
• Grantee: Stéphanie Kim Azevedo de Almeida
• Host Institution: Centro Universitário Saúde ABC. Fundação do ABC. Santo André , SP, Brazil

Abstract

Hereditary Angioedema with Normal C1 Inhibitor (C1INH) was first described in 2000. It affects both genders with higher prevalence of females due to hormonal influence. Symptoms have been associated with increased bradykinin and part of the patients present factor 12 mutation. Although knowledge about the mechanism involved is limited, HAE therapy with C1INH deficiency has been proposed based on the clinical symptoms and knowledge acquired in HAE with C1-INH deficiency. Objectives To evaluate the response to therapy of symptomatic patients with HAEnlC1INH proposing an approach based on the recognized pathophysiological mechanism. Methods: Patients with symptoms suggestive of HAE, familial history and normal C1-INH will be included. DNA samples will be evaluated for the presence of mutations on exon 9 of the F12 gene. Thus, 3 groups will be evaluated: a) patients with HAEnlC1INH and factor XII mutation; B) patients with HAEn1C1INH without factor XII mutation; C) patients with AEHnlC1INH, no family history. The protocol was approved by ethical committee. (AU)