Development and results of the Spanish registry of patients with alpha-1-antitrypsin deficiency

The Spanish registry of alpha-1 antitrypsin deficiency was founded in 1993 and became a member of the International Registry (AIR) in 1999. We describe the updating process following its incorporation into AIR and compare the data collected in the first period (1993–1999) and the second period (1999–2005), during which time patients were included exclusively by internet. The registry included 301 patients during period 1, 69% males and 46% had a history of smoking. Their mean age was 46 years (SD = 13) and 284 (94%) had the ZZ phenotype, 49% received augmentation therapy. During period 2, 161 new cases were included, 63% of whom were males with a mean age of 44 years (SD = 16). A total of 126 (78%) had the ZZ phenotype. Only 12% received augmentation therapy. A total of 462 different patients were included in both periods. Significant differences were observed in the number of cases with the SZ phenotype and the severity of FEV1 impairment between the two periods. Implementation of an internet-based collection of data did not result in a lower rate of reporting to the registry. However, data from a significant number of patient included in period 1 could not be actualized in the new data base.

[1]  M. Miravitlles,et al.  [Alpha1-antitrypsin deficiency: situation in Spain and development of a screening program]. , 2006, Archivos de bronconeumologia.

[2]  M. Miravitlles,et al.  Results of a case-detection programme for α1-antitrypsin deficiency in COPD patients , 2005, European Respiratory Journal.

[3]  M. Campos,et al.  Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. , 2005, Chest.

[4]  M. Miravitlles.  Enfisema por déficit de alfa-1-antitripsina: ¿es realmente una enfermedad infrecuente? , 2004 .

[5]  M. Miravitlles,et al.  Emphysema due to alpha-antitrypsin deficiency: familial study of the YBARCELONA variant. , 2003, Chest.

[6]  R. Stockley,et al.  α1-antitrypsin deficiency: a report from the 2nd meeting of the Alpha One International Registry, Rapallo (Genoa, Italy), 2001 , 2002, European Respiratory Journal.

[7]  M. Miravitlles,et al.  Geographic variations in prevalence and underdiagnosis of COPD: results of the IBERPOC multicentre epidemiological study. , 2000, Chest.

[8]  M. Miravitlles,et al.  Characterization of the New Alpha-1-Antitrypsin-Deficient PI M-Type Allele, PI Mvall d’hebron (Pro369→Ser) , 2000, Human Heredity.

[9]  L. Fleming,et al.  Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency. , 2000, Chest.

[10]  M. Miravitlles,et al.  Estado actual del tratamiento sustitutivo en el enfisema congénito por déficit de alfa-1-antitripsina. Informe del Registro Nacional , 1999 .

[11]  M. Miravitlles,et al.  Usefulness of a national registry of alpha-1-antitrypsin deficiency. The Spanish experience. , 1998, Respiratory medicine.

[12]  R. S. Sen,et al.  Survival and FEV1 decline in individuals with severe deficiency of α1-antitrypsin , 1998 .

[13]  I. Horowitz.  Alpha 1-proteinase inhibitor (human) shortage. , 1996, Chest.

[14]  M. Miravitlles,et al.  Informe del Registro Español de Pacientes con Déficit de Alfa-1-Antitripsina , 1995 .

[15]  P. Grob.  [Alpha 1 antitrypsin]. , 1976, Ergebnisse der inneren Medizin und Kinderheilkunde.