[Alpha1-antitrypsin deficiency in Austria: analysis of the Austrian Alpha1-international-registry database].
OBJECTIVE
Alpha1-antitrypsin deficiency is a rare hereditary disorder. Deficient patients are at a higher risk to develop lung emphysema at an early age. The alpha1-antitrypsin registry was founded on 1996 to get new insights into the pathogenesis of the disease and to develop new therapeutic strategies. In this study the epidemiological and clinical findings of the Austrian alpha1-antitrypsin deficient patients are presented.


METHODS
A total of 139 patients with severe alpha1-antitrypsin deficiency, identified by phenol- and genotyping, were evaluated retrospectively by their physicians with the help of a questionnaire.


RESULTS
Most patients were smokers or ex-smokers (71.9%) who developed symptoms in their fourth decade. The mean duration between the onset of symptoms and the final diagnosis was 6.5 years. About 25% of the evaluated patients were unable to practice their profession because of their illness.


CONCLUSIONS
Alpha1-antitrypsin deficiency is a rare condition with delayed diagnosis. Because of the benefit of an early diagnosis further effort should be put towards early detection.
Huber
Florian
F
2. Medizinische Abteilung - Lungenabteilung, Wilhelminenspital, Lehrkrankenhaus der Medizinischen Universität Wien, Wien, Austria.
Schmid-Scherzer
Karin
K
Wantke
Felix
F
Frantal
Sophie
S
Kneussl
Meinhard
M
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D001317:Austria; D002648:Child; D002675:Child, Preschool; D003431:Cross-Cultural Comparison; D003430:Cross-Sectional Studies; D016208:Databases, Factual / Q000706:statistics & numerical data*; D004185:Disability Evaluation; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000706:statistics & numerical data; D008875:Middle Aged; D010641:Phenotype; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011656:Pulmonary Emphysema / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011788:Quality of Life; D012042:Registries; D012907:Smoking / Q000009:adverse effects; D011795:Surveys and Questionnaires; D055815:Young Adult; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics
D000515:alpha 1-Antitrypsin