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

被引：117

作者：

Zanichelli, Andrea ^{[1
]}

Arcoleo, Francesco ^{[2
]}

Barca, Maria Pina ^{[3
]}

Borrelli, Paolo ^{[4
]}

Bova, Maria ^{[5
]}

Cancian, Mauro ^{[6
]}

Cicardi, Marco ^{[1
]}

Cillari, Enrico ^{[2
]}

De Carolis, Caterina ^{[7
]}

De Pasquale, Tiziana ^{[8
]}

Del Corso, Isabella ^{[9
]}

Di Rocco, Paola Cesinaro ^{[10
]}

Guarino, Maria Domenica ^{[11
]}

Massaro, Ilaria ^{[12
]}

Minale, Paola ^{[13
]}

Montinaro, Vincenzo ^{[14
]}

Neri, Sergio ^{[15
]}

Perricone, Roberto ^{[11
]}

Pucci, Stefano ^{[8
]}

Quattrocchi, Paolina ^{[16
]}

Rossi, Oliviero ^{[17
]}

Triggiani, Massimo ^{[18
]}

Zanierato, Giuseppina ^{[19
]}

Zoli, Alessandra ^{[20
]}

机构：

[1] Univ Milan, Osped Luigi Sacco, Dipartimento Sci Biomed & Clin Luigi Sacco, Milan, Italy

[2] Osped Riuniti Villa Sofia Cervello, UOC Patol Clin, Palermo, Italy

[3] AUO Cagliari, Struttura Complessa Med Interna & Allergol & Immu, Cagliari, Italy

[4] Osped U Parini, Struttura Complessa Med Interna Ambulatorio Aller, Aosta, Italy

[5] AOU Federico II, Ctr Interdipartimentale Ric Sci Immunol Base & Cl, Naples, Italy

[6] Univ Padua, Dipartimento Med, Padua, Italy

[7] Ostetricia II Azienda Osped San Giovanni Addolora, UOC Ginecol, Rome, Italy

[8] Presidio Osped Civitanova Marche, Unita Operat Allergol, Civitanova Marche, Italy

[9] AOUP, Dipartimento Med Interna, UO Immuno Allergol, Pisa, Italy

[10] US Allergol Clin AUSL, Pescara, Italy

[11] Policlin Tor Vergata, UOC Reumatol, Rome, Italy

[12] Univ Florence, Ctr Ric Trasferimento & Alta Formazione Denoth, Florence, Italy

[13] UOC Allergol, IRCCS San Martino, Dipartimento Med Interna, Genoa, Italy

[14] Univ Consorziale Policlin Bari, Univ Azienda Osped, Unita Operat Nefrol, Bari, Italy

[15] Policlin Univ Catania, Dipartimento Sci Med Pediat, Med Interna A Francaviglia, Catania, Italy

[16] Policlin Univ, Dipartimento Med Specialist, UOC Allergol & Immunol Clin, Messina, Italy

[17] AOU Careggi, SOD Immunoallergol, Florence, Italy

[18] Univ Salerno, Dipartimento Med & Chirurg, I-84100 Salerno, Italy

[19] Azienda Sanitaria Locale Biella, Struttura Semplice Allergol, Biella, Italy

[20] Osped Riuniti Ancona, Clin & Tipizzaz Tessutale, Serv Immunol, Ancona, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2015年 / 10卷

关键词：

Hereditary angioedema; C1; inhibitor; C4; ANGIONEUROTIC-EDEMA;

D O I：

10.1186/s13023-015-0233-x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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 5th decade and women after the 6th. 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.

引用

页数：6