Alpha1-antitrypsin deficiency - diagnostic testing and disease awareness in Germany and Italy

Respir Med. 2013 Sep;107(9):1400-8. doi: 10.1016/j.rmed.2013.04.023. Epub 2013 Jun 17.


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.

Keywords: COPD; Genetic test; Knowledge; Rare disease; Screening.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attitude of Health Personnel*
  • Attitude to Health*
  • Awareness
  • Clinical Competence / standards
  • Communication
  • Delayed Diagnosis
  • Germany
  • Humans
  • Interprofessional Relations
  • Italy
  • Physician-Patient Relations
  • Pulmonary Medicine / standards
  • Registries
  • Time-to-Treatment
  • alpha 1-Antitrypsin Deficiency / diagnosis*
  • alpha 1-Antitrypsin Deficiency / psychology
  • alpha 1-Antitrypsin Deficiency / therapy