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

Orphanet Journal of Rare Diseases

Alessandra Zoli^1,14  Giuseppina Zanierato¹  Massimo Triggiani⁸  Oliviero Rossi^1,18  Paolina Quattrocchi^2,20  Stefano Pucci^1,10  Roberto Perricone⁴  Sergio Neri⁵  Vincenzo Montinaro^1,12  Paola Minale^1,15  Ilaria Massaro^1,16  Maria Domenica Guarino⁴  Paola Cesinaro Di Rocco^1,19  Isabella Del Corso^1,17  Tiziana De Pasquale^1,10  Caterina De Carolis²  Enrico Cillari³  Marco Cicardi⁷  Mauro Cancian⁶  Maria Bova^1,11  Paolo Borrelli⁹  Maria Pina Barca^1,13  Francesco Arcoleo³  Andrea Zanichelli⁷ 

[1] Struttura Semplice Allergologia, Azienda Sanitaria Locale di Biella, Biella, Italy;UOC Ginecologia ed Ostetricia II Azienda Ospedaliera San Giovanni-Addolorata Roma, Rome, Italy;U.O.C. Patologia Clinica, Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy;UOC Reumatologia, Policlinico Tor Vergata, Roma, Italy;Dipartimento di Scienze mediche e pediatriche, Medicina Interna “A Francaviglia”, Policlinico universitario di Catania, Catania, Italy;Dipartimento di Medicina, Università degli Studi di Padova, Padova, Italy;Dipartimento di Scienze Biomediche e Cliniche “Luigi Sacco”, Università degli Studi di Milano, Ospedale Luigi Sacco, Milano, Italy;Dipartimento di Medicina e Chirurgia, Università degli Studi di Salerno, Salerno, Italy;Struttura Complessa Medicina Interna, Ambulatorio di Allergologia, Ospedale U. Parini, Aosta, Italy;Unità Operativa di Allergologia, Presidio ospedaliero di Civitanova Marche, Civitanova Marche, Italy;Centro Interdipartimentale di Ricerca in Scienze Immunologiche di Base e Cliniche, A.O.U. Federico II, Naples, Italy;Unità Operativa Nefrologia Universitaria Azienda Ospedaliero-Universitaria “Consorziale Policlinico” Bari, Bari, Italy;Struttura complessa di Medicina Interna e Allergologia e Immunologia Clinica, AUO Cagliari, Cagliari, Italy;Servizio di Immunologia Clinica e Tipizzazione Tessutale- Ospedali Riuniti di Ancona, Ancona, Italy;IRCCS San Martino, Dipartimento di Medicina Interna UOC Allergologia, Genova, Italy;Centro di Ricerca, Trasferimento ed Alta Formazione Denothe, Università degli Studi di Firenze, Firenze, Italy;UO Immuno-Allergologia, Dipartimento di Medicina Interna, Azienda Ospedaliera Universitaria Pisana (AOUP), Pisa, Italy;SOD Immunoallergologia AOU Careggi, Florence, Italy;U.O.D.S. di Allergologia Clinica AUSL, Pescara, Italy;U.O.C. di Allergologia e Immunologia Clinica, Dipartimento di Medicine Specialistiche, Policlinico Universitario, Messina, Italy

关键词: C4;    C1 inhibitor;    Hereditary angioedema;   

Others  :  1135325
DOI  :  10.1186/s13023-015-0233-x

 received in 2014-08-29, accepted in 2015-01-25,  发布年份 2015

【 摘 要 】

Introduction

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. The chance of having C1-INH-HAE with C4 plasma levels >50% is < 0.05.

Conclusion

This nationwide survey of C1-INH-HAE provides for Italy a prevalence of 1:64,935. C1-INH-HAE patients listed in our database have a shorter life expectancy than the general population. An increased awareness of the disease is needed to reduce this discrepancy. Measurement of C4 antigen can exclude diagnosis of C1-INH-HAE with an accuracy > 95%. This parameter should be therefore considered for initial screening in differential diagnosis of angioedema.

【 授权许可】

   
2015 Zanichelli et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

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