title: [Characteristics of the patients included in the French cohort of patients with emphysema caused by alpha-1 antitrypsin deficiency].
abstract: BACKGROUND
  Alpha-1 antitrypsin deficiency is associated with the occurrence of pulmonary emphysema. The aim of this study is to describe the characteristics of patients with alpha-1 antitrypsin deficiency associated pulmonary emphysema.
  
  
  METHODS
  We describe a prospective cohort study including adult patients with alpha-1 antitrypsin deficiency associated pulmonary emphysema confirmed by CT scan living in France. Patients' clinical and functional characteristics, quality of life measures and management were recorded every 6 months during a five-year period.
  
  
  RESULTS
  201 patients were included from 56 centres between 2005 and 2008. The characteristics of 110 patients have been analysed. Mean age was 50 years (SD:11.8), 62.7% were males, 90% were tobacco smokers. The main functional results (% predicted) were: FEV1: 42.8 (19.6), CPT: 128.3 (21.7), CRF: 167.0 (46.0), 6 minute walking distance (meters): 413 (130). 51 (46.4%) patients received augmentation therapy. Augmentation therapy was administered weekly (37.5%), twice a month (35.4%) or monthly (25.5%). Study centre was the only factor associated with the likelihood to received augmentation therapy.
  
  
  CONCLUSIONS
  The clinical and functional characteristics as well as management of these patients varied markedly. There is a need for a standardization of the management of patients with alpha-1 antitrypsin deficiency associated pulmonary emphysema.
authors.affiliation: Service de Pneumologie B et transplantation pulmonaire, Hôpital Bichat, APHP et Université Paris-Diderot, Paris 7, Paris, France. gabriel.thabut@bch.aphp.fr
authors.forename: G
authors.initials: G
authors.lastname: Thabut
authors.forename: J-F
authors.initials: JF
authors.lastname: Mornex
authors.forename: A
authors.initials: A
authors.lastname: Cuvelier
authors.forename: B
authors.initials: B
authors.lastname: Padrazzi
authors.forename: C
authors.initials: C
authors.lastname: Pison
authors.forename: F
authors.initials: F
authors.lastname: Neukirch
authors.forename: J-J
authors.initials: JJ
authors.lastname: Lafitte
authors.forename: J
authors.initials: J
authors.lastname: Boczkowski
authors.forename: M
authors.initials: M
authors.lastname: Balduyck
authors.forename: J-F
authors.initials: JF
authors.lastname: Muir
authors.forename: P
authors.initials: P
authors.lastname: Carles
authors.forename: M
authors.initials: M
authors.lastname: Fournier
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D011656:Pulmonary Emphysema / Q000453:epidemiology / Q000209:etiology*; D012129:Respiratory Function Tests; D012907:Smoking / Q000453:epidemiology; D014361:Trypsin Inhibitors / Q000627:therapeutic use; D000515:alpha 1-Antitrypsin / Q000627:therapeutic use; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000188:drug therapy / Q000453:epidemiology
chemical_list: D014361:Trypsin Inhibitors; D000515:alpha 1-Antitrypsin