title: Diagnostic and therapeutic management of hereditary angioedema due to C1-inhibitor deficiency: the Italian experience.
abstract: OBJECTIVE
  Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare disease, with a reported prevalence of about 1 : 50 000. C1-INH-HAE causes disabling symptoms, which may be life-threatening if swelling affects upper airways. Diagnostic procedures are now well established and the role of bradykinin as the main mediator of plasma outflow eliciting angioedema formation has been clearly elucidated.
  
  
  RESULTS
  Increased understanding of the pathogenesis of C1-INH-HAE allowed in recent years the development of new drugs targeted to inhibit bradykinin synthesis (Ecallantide) or activity (Icatibant). At the same time, a recombinant C1-INH concentrate (Ruconest) was produced from the milk of transgenic rabbits and two plasma-derived C1-INHs (Berinert, Cinryze) underwent controlled trials to obtain marketing authorization. In 2012, an Italian network for C1-INH-HAE (ITACA) was established by physicians of 17 HAE reference centres to collect data from Italian patients and to homogenize and improve the diagnostic and therapeutic approach to the disease.
  
  
  CONCLUSIONS
  Although there is a widespread agreement on therapeutic goals and treatment of C1-INH-HAE acute attacks, different approaches to prophylaxis are still present among HAE experts. The clinical experience of ITACA on a large population of C1-INH-HAE patients followed for several years may help in identifying the most effective strategies for the management of the disease.
authors.affiliation: Dipartimento di Medicina, Università degli Studi di Padova, Padova, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Cancian
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy; D000818:Animals; D030801:Animals, Genetically Modified; D001920:Bradykinin / Q000037:antagonists & inhibitors / Q000097:blood; D003174:Complement C1 Inactivator Proteins / Q000627:therapeutic use*; D050718:Complement C1 Inhibitor Protein / Q000627:therapeutic use*; D006801:Humans; D007558:Italy; D010455:Peptides / Q000627:therapeutic use*; D011817:Rabbits; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D010455:Peptides; D011994:Recombinant Proteins; C469952:SERPING1 protein, human; C511194:ecallantide; C571093:conestat alfa; D001920:Bradykinin