Diagnosing A1AT Deficiency (AATD)
AATD is a genetic disorder commonly referred to as “genetic COPD”2
Because AATD has symptoms similar to more common conditions like COPD and asthma, it can prove especially challenging to diagnose.2,3
AATD is the most common genetic risk factor for COPD.4
In fact, current guidelines recommend screening all individuals diagnosed with COPD or unexplained bronchiectasis for AATD regardless of age or ethnicity.5,6
Up to 3% of all people diagnosed with COPD may have undetected AATD.4
AATD: The diagnosis dilemma
>90% of patients living with AATD have not been properly diagnosed7
81% of patients with AATD have COPD with self-reported symptoms of asthma, chronic bronchitis, and emphysema, often in combination8
43% of patients with AATD reported seeing at least 3 physicians before receiving a correct diagnosis9
AATD contributes to progressive lung damage
Healthy lung vs
A1AT-deficient lung
A1AT normally binds neutrophil elastase and prevents it from damaging healthy tissue.7
A1AT keeps neutrophil elastase levels in check, which protects the lung against alveolar wall destruction.10
A1AT deficiency results in uninhibited neutrophil elastase activity, an imbalance that can lead to lung damage, including emphysema.6
AATD may be more prevalent than you think
Don't hesitate—start your patients on augmentation therapy today
Early diagnosis of Alpha-1 can help patients:
- Mitigate or avoid adverse psychological effects associated with delayed diagnosis13
- Begin augmentation therapy, which may help to reduce the rate of decline in lung function5
The American Thoracic Society recommends family screening for first-degree relatives (parents, children, and siblings) of patients diagnosed with Alpha-1.13