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As healthcare providers, we know the importance of early and accurate diagnosis for our patients. Alpha1-antitrypsin deficiency (AAT deficiency) can be challenging to identify due to its similar presentation to chronic obstructive pulmonary disease (COPD) and asthma. Evaluating symptoms alone is not sufficient for diagnosis; genetic testing is essential.

I encourage you to screen patients for AAT deficiency with a cheek swab that is free, fast, and accurate. This important tool may help you detect this condition early—it only takes seconds and can make a significant difference in your patients’ lives. I included a short video below so you can learn more about how your patients can benefit from early detection and an AAT deficiency diagnosis.

Brian Bizik, MS, PA-C, DFAAPA
THEIR COPD MAY BE INHERITED, NOT JUST INHALED.

AAT deficiency can be difficult to diagnose because the condition has an identical clinical presentation with COPD and asthma1,2 In addition, AAT deficiency cannot be identified by evaluating symptoms alone.1,2-4 Detection and diagnosis of AAT deficiency requires genetic testing.2,5

Diagnosis is often delayed. The average time between onset of symptoms and accurate diagnosis is about 8 years, and often, patients see an average of 3 healthcare providers before a diagnosis of AAT deficiency is made.6
Look beyond smoking and screen for AAT deficiency.
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8 YEARS TO DIAGNOSIS | HCP Visit #1 | HCP Visit #2 | HCP Visit #3 | DIAGNOSIS
Learn more about AAT deficiency
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It only takes seconds with the completely free, fast, and accurate AlphaID™ cheek swab.
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The receipt of this free testing service does not create any expectation or obligation to purchase or use any product or service offered by any manufacturer.
References: 1. Lascano JE, Campos MA. The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency. Postgrad Med. 2017;129(8):889-895 2. Stoller JK. Myths and misconceptions about α1-antitrypsin deficiency. Arch Intern Med. 2009;169(6):546-550. 3. American Thoracic Society/European Respiratory Society. American Thoracic Society/​European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900 4. National Organization for Rare Disorders. Alpha-1 antitrypsin deficiency. https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/. Accessed July 5, 2024. 5. Data on file, Alpha-1 Genetics Laboratory. 6. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. CHEST. 2005;128(3):1179-1186.
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