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.

Zanichelli, A., Arcoleo, F., Barca, M., Borrelli, P., Bova, M., Cancian, M., et al. (2015). A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ORPHANET JOURNAL OF RARE DISEASES, 10(1), 11 [10.1186/s13023-015-0233-x].

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

DE CAROLIS, CATERINA;GUARINO, MARIA DOMENICA;PERRICONE, ROBERTO;
2015

Abstract

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.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/16 - Reumatologia
English
C1 inhibitor; C4; Hereditary angioedema; Adolescent; Adult; Angioedemas, Hereditary; Female; Humans; Italy; Male; Middle Aged; Young Adult; Medicine (all); Genetics (clinical); Pharmacology (medical)
http://www.ojrd.com/
Zanichelli, A., Arcoleo, F., Barca, M., Borrelli, P., Bova, M., Cancian, M., et al. (2015). A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy. ORPHANET JOURNAL OF RARE DISEASES, 10(1), 11 [10.1186/s13023-015-0233-x].
Zanichelli, A; Arcoleo, F; Barca, M; Borrelli, P; Bova, M; Cancian, M; Cicardi, M; Cillari, E; DE CAROLIS, C; De Pasquale, T; Del Corso, I; Di Rocco, P; Guarino, Md; Massaro, I; Minale, P; Montinaro, V; Neri, S; Perricone, R; Pucci, S; Quattrocchi, P; Rossi, O; Triggiani, M; Zanierato, G; Zoli, A
Articolo su rivista
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/155227
Citazioni
  • ???jsp.display-item.citation.pmc??? 30
  • Scopus 86
  • ???jsp.display-item.citation.isi??? 85
social impact