[Characteristics of the patients included in the French cohort of patients with emphysema caused by alpha-1 antitrypsin deficiency].
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.
Thabut
G
G
Service de Pneumologie B et transplantation pulmonaire, Hôpital Bichat, APHP et Université Paris-Diderot, Paris 7, Paris, France. gabriel.thabut@bch.aphp.fr
Mornex
J-F
JF
Cuvelier
A
A
Padrazzi
B
B
Pison
C
C
Neukirch
F
F
Lafitte
J-J
JJ
Boczkowski
J
J
Balduyck
M
M
Muir
J-F
JF
Carles
P
P
Fournier
M
M
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
D014361:Trypsin Inhibitors; D000515:alpha 1-Antitrypsin