A1AT (squares) normally binds neutrophil elastase (light blue circles) and prevents it from damaging healthy tissue.3
A retrospective study reported that it took an average of 7.8 years between patients’ initial symptoms and a correct diagnosis of AATD.4
Only 34% of AATD patients reported a correct diagnosis by the first physician they saw.4
43% of AATD patients reported seeing at least 3 physicians before receiving a correct diagnosis.4
Identifying the mechanism of disease for AATD is complicated
According to a retrospective study, the average number of years between patients’ initial symptoms and a correct diagnosis of Alpha-1 is 7.8 years.4
The delay in diagnosis that AATD patients commonly experience has been attributed to the clinical difficulty in distinguishing overlapping symptoms of AATD from those of asthma and COPD.5
Misdiagnosis of AATD may be more prevalent than you think
Additional observations suggest that while the diagnosis of AATD has increased, early detection has not improved.
Prevalence of AATD may be greater than you think
Genetic epidemiology studies indicate that AATD may be one of the most common serious hereditary disorders in the United States.4,10
19 million AATD carriers in the United States
There may be as many as 19 million carriers of AATD in the United States who are unaware that they are carriers.11
Up to 100,000 undiagnosed cases of AATD in the United States
In the United States, an estimated 100,000 individuals have AATD.4,11
AATD may require closer examination
Reports from the American Thoracic Society and The New England Journal of Medicine acknowledge that the prevalence of AATD may be higher than most clinicians believe, estimating more than 90% of patients living with AATD have not been properly diagnosed.12
Guidelines for screening and diagnosis of AATD may provide insights for overcoming diagnostic challenges.
ATS guidelines recommend screening every patient for AATD if you are treating ANY of the following:
ATS also recommends screening and testing for:
In 2016, the Journal of the COPD Foundation published more concise guidelines for screening and diagnosis of AATD. Testing is recommended for:
Clinical evaluation and early detection6
The 2016 Journal of the COPD Foundation also provides recommendations for clinical evaluation of AATD:
Early diagnosis of Alpha-1 can help patients:
Multiple studies show that providing education on AATD status to individuals identified at birth helps reduce smoking rates in this population.13,14