Presentation: A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy (WAO International Scientific Conference 2014)

Sunday, 7 December 2014

Exhibition Hall-Poster Area (Sul America)

Andrea Zanichelli, MD , Dipartimento Di Scienze Biochimiche e Cliniche Luigi Sacco, Università Di Milano, Ospedale Luigi Sacco, Italy

Francesco Arcoleo, MD , U.O.C. Patologia Clinica, Ospedali Riuniti Villa Sofia-Cervello, Italy

Maria Pina Barca, MD , Struttura Complessa Di Medicina Interna e Allergologia e Immunologia Clinica, AUO Cagliari, Italy

Paolo Borrelli, MD , Struttura Complessa Medicina Interna, Ambulatorio Di Allergologia, Ospedale U. Parini, Aosta, Italy

Maria Bova, MD , Centro Interdipartimentale Di Ricerca in Scienze Immunologiche Di Base e Cliniche, A.O.U. Federico II, Napoli, Italy

Mauro Cancian, MD , Dipartimento Di Medicina, Università Degli Studi Di Padova, Italy

Marco Cicardi, MD , Dipartimento Di Scienze Biochimiche e Cliniche Luigi Sacco, Università Di Milano, Ospedale Luigi Sacco, Italy

Enrico Cillari, MD , U.O.C. Patologia Clinica, Ospedali Riuniti Villa Sofia-Cervello, Italy

Caterina De Carolis, MD , Uoc Ginecologia Ed Ostetricia II, Azienda Ospedaliera San Giovanni-Addolorata Roma, Italy

Tiziana De Pasquale, MD , Unità Operativa Di Allergologia, Presidio Ospedaliero Di Civitanova Marche, Italy

Isabella Del Corso, MD , UO Immuno-Allergologia, Dipartimento Di Medicina Interna, Azienda Ospedaliera Universitaria Pisana (AOUP), Italy

Paola Cesinaro Di Rocco, MD , U.O.D.S. Di Allergologia Clinica Ausl, Italy

Maria Domenica Guarino, MD , Uoc Reumatologia, Policlinico Tor Vergata, Roma, Italy

Ilaria Massardo , Centro Di Ricerca, Trasferimento Ed Alta Formazione Denothe, Università Degli Studi Di Firenze, Italy

Paola Minale, MD , Dipartimento Di Medicina Interna Uoc Allergologia, Irccs San Martino, Genova, Italy

Vincenzo Montinaro, MD , Unità Operativa Nefrologia Universitaria, Azienda Ospedaliero-Universitaria "Consorziale Policlinico" Bari, Italy

Sergio Neri, MD , Dipartimento Di Scienze Mediche e Pediatriche, Medicina Interna "a Francaviglia", Policlinico Universitario Di Catania, Italy

Roberto Perricone, MD , Uoc Reumatologia, Policlinico Tor Vergata, Roma, Italy

Stefano Pucci, MD , Unità Operativa Di Allergologia, Presidio Ospedaliero Di Civitanova Marche, Italy

Paolina Quattrocchi, MD , U.O.C. Di Allergologia e Immunologia Clinica, Dipartimento Di Medicine Specialistiche, Policlinico Universitario, Messina, Italy

Oliviero Rossi, MD , SOD Immunoallergologia, Aou Careggi, Firenze, Italy

Massimo Triggiani, MD , D, Universita Degli Studi Di Napoli Federico II, Italy

Giuseppina Zanierato, MD , Struttura Semplice Allergologia, Azienda Sanitaria Locale Di Biella, Italy

Alessandra Zoli, MD , Servizio Di Immunologia Clinica e Tipizzazione Tessutale, Ospedali Riuniti Di Ancona, Italy

Piero Mantovano , Associazione Italiana Angioedema Ereditario, Italy

Vincenzo Penna , Associazione Italiana Angioedema Ereditario, Italy

Background: Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,000 in the global population without racial or gender differences. In this study we present the results of a nationwide survey of C1-INH-HAE patients referring to 17 Italian centers, the Italian network for C1-INH-HAE, ITACA

Methods: Italian patients diagnosed with C1-INH-HAE from 1973 to 2013 were included in the study. Diagnosis of C1-INH-HAE was based on family and/or personal history of recurrent angioedema without urticaria and on antigenic and/or functional C1-INH deficiency.

Results: 983 patients (53% female) from 376 unrelated families were included in this survey. Since 1973, 63 (6%) patients diagnosed with C1-INH-HAE died and data from 3 patients were missing when analysis was performed. Accordingly, the minimum prevalence of HAE in Italy in 2013 is 920:59,394,000 inhabitants, equivalent to 1:64,935. Compared to the general population, patients are less represented in the early and late decades of life: men start reducing after the 5^th decade and women after the 6^th. Median age of patients is 45 (IQ 28-57), median age at diagnosis is 26 years (IQ 13-41). C1-INH-HAE type 1 are 87%, with median age at diagnosis of 25 (13-40); type 2 are 13% with median age at diagnosis of 31 (IQ 16-49). Functional C1INH is ≤50% in 99% of patients. Antigen C1INH is ≤50% in 99% of type 1. C4 is ≤50% in 96% of patients.

Conclusions: This nationwide survey of C1-INH-HAE provides for Italy a prevalence of 1: 64,935. C1-INH-HAE patients listed in our database seem to have a shorter life expectancy than the general population. Since angioedema symptoms usually start during puberty, the estimated delay in diagnosis is higher than 10 years. The chance of having C1-INH-HAE with C4 plasma levels >50% is < 0.05 .

1057 A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy