Estado actual del tratamiento sustitutivo en el enfisema congénito por déficit de alfa-1-antitripsina. Informe del Registro Nacional

Profiles of cases included in the Spanish registry of patients with alpha-1 antitrypsin deficiency

“…Indeed, there is a greater number of patients with the SZ deficiency due to their not being initially included in the registry and what is even more relevant is that the number of new cases receiving augmentation therapy has significantly decreased from 49% in period 1 to 12% in period 2. The most probable cause for these differences is the scarce availability of treatment for the patients, especially from 1999 to 2003 (Horowitz 1996; Miravitlles et al 1999). It is possible that the current number of patients receiving augmentation therapy is higher than that reported in the questionnaires since some patients may have started treatment after having been registered as not being treated.…”

“…The registry also provides advice on aspects related to the diagnosis, the treatment and the follow up of patients with AAT deficiency and participates in international investigation projects (Vidal et al 1996; Miravitlles et al 1998, 1999). …”

Augmentation therapy for emphysema due to alpha-1-antitrypsin deficiency

“…Augmentation therapy should only be prescribed to patients with severe AAT deficiency, a PiZZ phenotype, or a rare deficient variant and functional evidence of pulmonary emphysema [Miravitlles et al 1999b]. In nonindex cases (those in which the deficiency is diagnosed through family screening rather than as a result of respiratory symptoms), accelerated loss of lung function for at least 1 year should be demonstrated [Vidal et al 2006b].…”

“…In light of these data, together with the difficulties most patients have with a lifetime weekly regimen and the demonstration that monthly administration produced very low C min values [Dirksen et al 1999;Hubbard et al 1988;Miravitlles et al 1994], the Spanish Registry recommended the use of a dosage of 180 mg/Kg/21 days as an alternative to the weekly regimen [Vidal et al 2006b;Miravitlles et al 1998]. The three-weekly regimen has been widely used in Spanish over the last 10 years with no incidence of significant side effects [Vidal et al 2006b;Miravitlles et al 1999b]. New pharmacokinetic studies have demonstrated that the administration of 50 mg/Kg/7 days and 120 mg/Kg/14 days have been shown to produce C min values above the protective threshold level in over 90% of patients [Vidal et al 2006a;Soy et al 2006].…”

Déficit de alfa-1-antitripsina. Situación en España y desarrollo de un programa de detección de casos

“…La prevalencia del déficit de AAT, calculada a partir de los datos de frecuencia génica en España, contrastan con la realidad del Registro Español de pacientes, que desde su fundación en el año 1993 incluye a unos 410 pacientes de 16 de las 17 comunidades autónomas [53][54][55] . A pesar de que la tasa de detección del déficit en España es similar, o incluso superior, a la de otros países de nuestro entorno 56 , todavía sigue siendo baja con respecto al número estimado de pacientes.…”