Because AATD shares an identical clinical presentation as 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.2
In fact, current guidelines recommend screening all individuals diagnosed with COPD or unexplained bronchiectasis for AATD regardless of age or ethnicity.2,4
An estimated 3% of all people diagnosed with COPD may have undetected AATD.2
>90% of patients living with AATD have not been properly diagnosed5
81% of patients with AATD have COPD with self-reported symptoms of asthma, chronic bronchitis, and emphysema, often in combination6
43% of patients with AATD reported seeing at least 3 physicians before receiving a correct diagnosis7
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.8
A1AT deficiency results in uninhibited neutrophil elastase activity, an imbalance that can lead to lung damage, including emphysema.9
Early diagnosis of Alpha-1 can help patients:
Distinguishing alpha1 antitrypsin (A1AT) deficiency based on clinical presentation and evaluation alone is not possible.3
Our DNA1 Advanced Alpha-1 Screening™ Test Kit provides targeted genotyping and next-generation gene sequencing without the need for additional testing.
Along with the indication of abnormal results, you'll get information to help your patients take the next step from diagnosis to starting on augmentation therapy with confidence.
The American Thoracic Society recommends family screening for first-degree relatives (parents, children, and siblings) of patients diagnosed with Alpha-1.13