The IDDEA project: A strategy for the detection of alpha-1 antitrypsin deficiency in COPD patients in the primary care setting

Therapeutic Advances in Respiratory Disease

Volumn 5, Issue 4, 2011, Pages 237-243

  Molina, Jesús ^a   Flor, Xavier ^b,c   García, Rosa ^c,d   Timiraos, Rosario ^c,d   Tirado Conde, Gema ^e   Miravitlles, Marc ^c  

^a Centro de Salud Francia i   (Spain)

^b Centre d Atenció Primària CAO El Clot   (Spain)

^c Sociedad Española de Medicina de Familia y Comunitaria   (Spain)

^d Centro de Salud de Culleredo   (Spain)

^e HOSPITAL CLÍNIC   (Spain)

Author keywords

alpha 1 antitrypsin deficiency; chronic obstructive; genetic carrier detection; primary care; pulmonary disease

Indexed keywords

ADULT; AGED; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; BLOOD SAMPLING; CHRONIC OBSTRUCTIVE LUNG DISEASE; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PRIMARY HEALTH CARE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE;

EID: 79960139086     PISSN: 17534658     EISSN: 17534666     Source Type: Journal    
DOI: 10.1177/1753465811404919     Document Type: Article

References (24)

1. American Thoracic Society/European Respiratory Society (2003) Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 168: 818–900.
2. Blanco I. de Serres F.J. Fernandez-Bustillo E. Lara B. Miravitlles M. (2006) Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur Respir J 27: 77–84.
3. Blanco I. Fernandez-Bustillo E. de Serres F.J. Alkassam D. Rodriguez M.C. (2004) [PI*S and PI*Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in Spain]. Med Clin (Barc) 123: 761–765.
4. Campbell E.J. (2000) Alpha1-antitrypsin deficiency: incidence and detection program. Respir Med 94(Suppl. C): S18's21.
5. Costa X. Jardi R. Rodriguez F. Miravitlles M. Cotrina M. Gonzalez C. (2000) Simple method for alpha1-antitrypsin deficiency screening by use of dried blood spot specimens. Eur Respir J 15: 1111–1115.
6. Cox D.W. Alpha-1 antitrypsin deficiency. In: Scriver C.R. Beaudet A.L. Sly W.S. Valle D. (eds). (1995) The Molecular and Metabolic Basis of Inherited Disease 7th. McGraw-Hill: New York.
7. de la Roza C. Lara B. Vila S. Miravitlles M. (2006) [Alpha1-antitrypsin deficiency: situation in Spain and development of a screening program]. Arch Bronconeumol 42: 290–298.
8. de la Roza C. Rodriguez-Frias F. Lara B. Vidal R. Jardi R. Miravitlles M. (2005) Results of a case-detection programme for alpha1-antitrypsin deficiency in COPD patients. Eur Respir J 26: 616–622.
9. de Serres F.J. (2002) Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 122: 1818–1829.
10. de Serres F.J. (2003) Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect 111: 1851–1854.
11. DeMeo D.L. Silverman E.K. (2004) Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 59: 259–264.
12. Ferrarotti I. Scabini R. Campo I. Ottaviani S. Zorzetto M. Gorrini M. (2007) Laboratory diagnosis of alpha1-antitrypsin deficiency. Transl Res 150: 267–274.
13. Kamboh M.I. (1985) Biochemical and genetic aspects of human serum a-1 proteinase inhibitor protein. Dis Markers 3: 135–135.
14. Lara B. de la Roza C. Vila S. Vidal R. Miravitlles M. (2007) Development and results of the Spanish registry of patients with alpha-1-antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis 2: 393–398.
15. Levy M.L. Fletcher M. Price D.B. Hausen T. Halbert R.J. Yawn B.P. (2006) International Primary Care Respiratory Group (IPCRG) Guidelines: diagnosis of respiratory diseases in primary care. Prim Care Respir J 15: 20–34.
16. Miravitlles M. Herr C. Ferrarotti I. Jardi R. Rodriguez-Frias F. Luisetti M. (2010) Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres. Eur Respir J 35: 960–968.
17. Miravitlles M. Vidal R. Barros-Tizon J.C. Bustamante A. Espana P.P. Casas F. (1998) Usefulness of a national registry of alpha-1-antitrypsin deficiency. The Spanish experience. Respir Med 92: 1181–1187.
18. Rodriguez F. Jardi R. Costa X. Cotrina M. Galimany R. Vidal R. (2002) Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens. Am J Respir Crit Care Med 166: 814–817.
19. Seersholm N. Kok-Jensen A. Dirksen A. (1994) Survival of patients with severe alpha 1-antitrypsin deficiency with special reference to non-index cases. Thorax 49: 695–698.
20. Smith S.M. Elkin S.L. Partridge M.R. (2009) Technology and its role in respiratory care. Prim Care Respir J 18: 159–164.
21. Stockley R.A. Luisetti M. Miravitlles M. Piitulainen E. Fernandez P. (2007) Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development. Eur Respir J 29: 582–586.
22. Stoller J.K. Aboussouan L.S. (2005) Alpha1-antitrypsin deficiency. Lancet 365: 2225–2236.
23. Vidal R. Blanco I. Casas F. Jardi R. Miravitlles M. (2006) [Guidelines for the diagnosis and management of alpha-1 antitrypsin deficiency]. Arch Bronconeumol 42: 645–659.
24. World Health Organization (1997) Alpha 1-antitrypsin deficiency: Memorandum from a WHO meeting. Bull World Health Organ 75: 397–415.