Abstract
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. 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. 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. 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.
Highlights
Alpha1-antitrypsin (AAT) deficiency is a co-dominant hereditary disorder
AAT deficiency is associated with an increased risk of developing chronic obstructive pulmonary disease (COPD), especially in smokers.[4]
Even though AAT deficiency has been classified as a rare disease, it is one of the most common hereditary disorders.9e12 Worldwide, it has been estimated that 3.4 million individuals have an AAT genotype that leads to a deficiency of this protein.[13]
Summary
Alpha1-antitrypsin (AAT) deficiency is a co-dominant hereditary disorder. Even though AAT deficiency has been classified as a rare disease, it is one of the most common hereditary disorders.9e12 Worldwide, it has been estimated that 3.4 million individuals have an AAT genotype that leads to a deficiency of this protein.[13] Despite this, screening studies have established that less than 10% of affected individuals have been diagnosed.[14] AAT deficiency is substantially under-recognized. Even among the individuals diagnosed, surveys have shown that the majority of these diagnoses are delayed for 5e7 years, during which period patients will typically consult several medical professionals.15e17 it can be assumed that, during this time delay before their diagnosis, many patients will have experienced a major decline in lung function
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