1. Diagnostic and therapeutic management of hereditary angioedema due to C1-inhibitor deficiency: The Italian experience
- Author
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Cancian, M, Arcoleo, F, Bafunno, V, Barca, Mp, Borrelli, P, Bova, M, Di Rocco PC, Cicardi, M, Cillari, E, De Carolis, C, De Pasquale, T, Del Corso, I, Guarino, Md, Massaro, I, Minale, P, Montinaro, V, Neri, S, Perricone, R, Pucci, S, Quattrocchi, P, Rossi, O, Senter, Riccardo, Triggiani, M, Zanichelli, A, Zanierato, G, and Zoli, A.
- Subjects
Adult ,C1 inhibitor deficiency ,Immunology ,Bradykinin ,Genetically Modified ,C1-inhibitor ,Complement C1 Inactivator Proteins ,Animals, Genetically Modified ,attenuated androgens ,bradykinin receptor antagonist ,hereditary angioedema ,prophylaxis ,Animals ,Complement C1 Inhibitor Protein ,Humans ,Italy ,Peptides ,Rabbits ,Recombinant Proteins ,Angioedemas, Hereditary ,Immunology and Allergy ,Medicine (all) ,chemistry.chemical_compound ,medicine ,heterocyclic compounds ,Hereditary Angioedema, Italy, ITACA ,biology ,Angioedema ,business.industry ,Angioedemas ,biochemical phenomena, metabolism, and nutrition ,respiratory system ,bacterial infections and mycoses ,medicine.disease ,respiratory tract diseases ,Genetically modified organism ,ITACA ,Hereditary ,chemistry ,Hereditary angioedema ,biology.protein ,medicine.symptom ,business ,Rare disease - Abstract
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.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.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.
- Published
- 2015