title: Alpha1-antitrypsin deficiency - diagnostic testing and disease awareness in Germany and Italy.
abstract: BACKGROUND
  Alpha1-antitrypsin (AAT) deficiency, although largely under-diagnosed, is the underlying cause of approximately 1% of COPD cases. Lack of awareness leads to long delays in diagnostic testing. Subsequently, lifestyle and treatment choices with potentially positive effects on prognosis may be postponed.
  
  
  METHODS
  Data on the testing and diagnostic practices for AAT deficiency were derived from the University of Pavia, Italy, and the University of Marburg, Germany. In addition, a survey of physicians was undertaken to explore their awareness and attitudes toward AAT deficiency.
  
  
  RESULTS
  In Pavia and Marburg, 125 and 729 patients, respectively, were identified with severe AAT deficiency between July 2006 and June 2011. The median time interval between the onset of symptoms and diagnosis was 6 years (interquartile range [IQR], 11; range, 0-40) and 7 years (IQR, 13; range, 0-73), respectively. Augmentation therapy was initiated almost immediately in Germany while treatment was delayed by 3 months in Italy (IQR, 5.25; range, 1-118). Survey data (Italy, n = 181; Germany, n = 180) revealed that pulmonologists had greater knowledge of AAT deficiency than internists and general practitioners, however, overall, only 18-25% of physicians tested all COPD patients. One-third of the respondents stated that they "sometimes" offered augmentation therapy to patients diagnosed with AAT deficiency.
  
  
  CONCLUSIONS
  Major obstacles to AAT deficiency testing are physicians' attitudes and lack of understanding of the condition. A greater adherence to the guidelines that recommend diagnostic testing of all COPD patients, coupled with simpler testing protocols, may decrease delays and positively impact patient outcomes.
authors.affiliation: Division for Pulmonary Diseases, Department of Internal Medicine, Philipps-University Marburg, 35043 Marburg, Germany. greulich@med.uni-marburg.de
authors.forename: Timm
authors.initials: T
authors.lastname: Greulich
authors.forename: Stefania
authors.initials: S
authors.lastname: Ottaviani
authors.forename: Robert
authors.initials: R
authors.lastname: Bals
authors.forename: Philipp M
authors.initials: PM
authors.lastname: Lepper
authors.forename: Claus
authors.initials: C
authors.lastname: Vogelmeier
authors.forename: Maurizio
authors.initials: M
authors.lastname: Luisetti
authors.forename: Ilaria
authors.initials: I
authors.lastname: Ferrarotti
mesh_terms: D001291:Attitude of Health Personnel; D001294:Attitude to Health; D001364:Awareness; D002983:Clinical Competence / Q000592:standards; D003142:Communication; D057210:Delayed Diagnosis; D005858:Germany; D006801:Humans; D007400:Interprofessional Relations; D007558:Italy; D010817:Physician-Patient Relations; D015272:Pulmonary Medicine / Q000592:standards; D012042:Registries; D061665:Time-to-Treatment; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy
keywords: COPD; Genetic test; Knowledge; Rare disease; Screening