Hereditary angioedema due to C1 inhibitor deficiency:: patient registry and approach to the prevalence in Spain

被引:198
作者
Roche, O
Blanch, A
Caballero, T
Sastre, N
Callejo, D
López-Trascasa, M
机构
[1] Hosp Univ La Paz, Unidad Inmunol, Madrid 28046, Spain
[2] Hosp Univ La Paz, Serv Alergia, Madrid 28046, Spain
[3] Hosp Univ La Paz, Unidad Bioestadist, Madrid 28046, Spain
[4] Hosp Juan Canalejo, La Coruna, Spain
[5] Ctr Salud Pontes, La Coruna, Spain
[6] Hosp Albacete, Albacete, Spain
[7] Hosp Alicante, Alicante, Spain
[8] Hosp Gen Elda, Alicante, Spain
[9] Hosp Torrecardenas, Almeria, Spain
[10] Hosp Alvarez Buylla, Asturias, Spain
[11] Hosp Cent Asturias, Asturias, Spain
[12] Ctr Salud Villaviciosa, Asturias, Spain
[13] Hosp Clideba, Badajoz, Spain
[14] Hosp Infanta Cristina, Badajoz, Spain
[15] Hosp Gen Manresa, Barcelona, Spain
[16] Hosp Mutua Tarasa, Barcelona, Spain
[17] Hosp Gen Valle Hebron, Barcelona, Spain
[18] Hosp Yague, Burgos, Spain
[19] Hosp Caceres, Caceres, Spain
[20] Hosp Puerta Mar, Cadiz, Spain
[21] Hosp Marques Valdecilla, Cantabria, Spain
[22] Hosp La Plana, Castellon de La Plana, Spain
[23] Hosp Santa Barbara, Ciudad Real, Spain
[24] Hosp San Cecilio, Granada, Spain
[25] Hosp Zumarraga, Guipuzcoa, Spain
[26] Ctr Perifer Especialidades Virgen Cinta, Huelva, Spain
[27] Hosp San Millan, Logrono, Spain
[28] Hosp Leon, Leon, Spain
[29] Hosp Santa Maria, Lleida, Spain
[30] Hosp Alcorcon, Madrid, Spain
[31] Fdn Jimenez Diaz, E-28040 Madrid, Spain
[32] Hosp Gen Gregorio Maranon, E-28007 Madrid, Spain
[33] Hosp Nino Jesus, Madrid, Spain
[34] Hosp Univ La Princesa, Madrid, Spain
[35] Hosp Puerta Hierro, Madrid, Spain
[36] Hosp Getafe, Madrid, Spain
[37] Hosp Univ La Paz, Madrid, Spain
[38] Hosp Ramon & Cajal, E-28034 Madrid, Spain
[39] Hosp Severo Ochoa, Madrid, Spain
[40] Hosp Carlos Haya, Malaga, Spain
[41] Hosp Virgen Arrixaca, Murcia, Spain
[42] Hosp Virgen Camino, Pamplona, Spain
[43] Hosp Orense, Orense, Spain
[44] Hosp Rio Carrion, Palencia, Spain
[45] Hosp Son Dureta, Palma de Mallorca, Spain
[46] Hosp Xral Cies, Pontevedra, Spain
[47] Hosp Virgen Rocio, Seville, Spain
[48] Hosp Virgen Macarena, Seville, Spain
[49] Hosp Nuestra Senora Candelaria, Tenerife, Spain
[50] Hosp El Valle, Toledo, Spain
关键词
D O I
10.1016/S1081-1206(10)61121-0
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Background: Hereditary angioedema (HAE) is a rare disease caused by Cl inhibitor mutations. Although more than 100 mutations have been described, epidemiologic data are lacking; therefore, we developed a Spanish HAE patient registry. Objective: To study the prevalence of HAE and the current state of diagnosis and treatment of this disease in Spain. Methods: Epidemiologic data were obtained by direct contact with physicians who treat patients with HAE and with patients themselves. Diagnosis was evaluated by measuring CI inhibitor levels and function, and most families also underwent genetic studies. Results: We registered 444 patients (minimal prevalence, 1.09 per 100,000 inhabitants), many of whom are asymptomatic (never having symptoms) (n = 61, 13.7%). Most symptomatic patients (62.9%) receive long-term prophylaxis with attenuated androgens (80.9%) and antifibrinolytic agents (22.8%), alone or in combination, but no patients are receiving long-term prophylaxis with C I inhibitor. There is a long delay in diagnosis (mean, 13.1 years). Nine patients underwent a tracheotomy as a consequence of a laryngeal attack, and 30 families recalled a total of 38 relatives who died of HAE, which underlines the severity of the illness. Conclusions: The detected minimal prevalence of HAE in Spain is 1.09 per 100,000 inhabitants. Because this is a rare disease and some patients may be misdiagnosed, this prevalence could be higher.
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收藏
页码:498 / 503
页数:6
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