How to Test for Alpha-1 if Misdiagnosed with Asthma

It is completely valid to question your diagnosis, especially if your asthma symptoms are not improving despite years of aggressive treatment ^[1]. Because the symptoms of Alpha-1 antitrypsin deficiency (AATD) overlap heavily with asthma and chronic obstructive pulmonary disease (COPD), it takes an average of 5 to 7 years for patients to receive an accurate diagnosis ^[2]. To find out if AATD is the underlying cause of your symptoms—or if it is coexisting alongside your asthma—you need to explicitly ask your primary care doctor or pulmonologist for a specific blood test that checks both your Alpha-1 protein levels and your genetics ^[3]. Important: Never stop your prescribed asthma medications without your doctor’s guidance, as you will likely still need them for symptom relief even if AATD is diagnosed.

The Specific Tests You Need

Getting an accurate diagnosis requires more than just checking if you have the Alpha-1 protein; your doctor also needs to know what specific genetic instructions your body is using to make it. You should ask your doctor to order:

• Alpha-1 Antitrypsin Serum Level: This measures the actual amount of the protective Alpha-1 protein currently in your bloodstream ^[4]. Low levels indicate a potential deficiency ^[5].
• Genotype and Phenotype Testing: This looks at your DNA (specifically the SERPINA1 gene) to identify the specific genetic mutations you carry, inheriting one letter from each parent (such as the common “S” or “Z” variants) ^[4]. Doctors may also order “phenotyping” to look at the physical characteristics of the protein itself. While basic genotyping is standard, more comprehensive testing like next-generation sequencing (NGS) is sometimes needed to catch rare genetic variants ^[6][7].

Testing the serum level and the genetics at the same time is the medical standard for getting a definitive, accurate answer ^[8].

How to Talk to Your Doctor

Many doctors still mistakenly associate AATD only with older adults who have a history of smoking, which heavily contributes to the frequent misdiagnosis of AATD as asthma ^[9]. When you speak to your healthcare provider, you can use clinical guidelines to advocate for yourself. You may even want to print out the Alpha-1 Foundation Clinical Practice Guidelines to physically bring to your appointment.

Here are actionable steps to guide your conversation:

1. Reference the guidelines: Clinical Practice Guidelines recommend AATD screening for any adult with persistent, difficult-to-manage, or adult-onset asthma ^[1][10].
2. Mention your lung function test (spirometry): If you have ever had a breathing test that showed fixed airflow obstruction (meaning your breathing didn’t significantly improve after taking a rescue inhaler), remind your doctor ^[11]. Guidelines heavily emphasize testing asthma patients who have this specific result ^[12][10].
3. Be direct in your request: State clearly, “Because my asthma is persistent and not responding to standard inhalers, I would like to be screened for Alpha-1 antitrypsin deficiency with a serum level and genotype blood test.”

Alternative: Free and Confidential Testing

If you face resistance from your healthcare provider or are concerned about genetic testing appearing on your permanent medical record, you can bypass the clinic. The Alpha-1 Foundation offers the Alpha-1 Coded Testing (ACT) program ^[13].

This program allows you to receive a free, confidential testing kit at home ^[14]. It uses a simple finger-prick blood sample and a coded system to keep your personal identity entirely separate from your genetic results ^[15].

Why Getting the Right Test Matters

Continuing to treat AATD as standard asthma without looking at the bigger picture can delay crucial medical interventions. A delayed diagnosis is linked to worsened breathing symptoms and an accelerated decline in overall lung function ^[16][17].

Confirming an AATD diagnosis opens the door to specialized care and monitoring. Because AATD is a genetic condition that also affects the liver, a diagnosis means you can get baseline liver function tests and urge your blood relatives to get screened. Finally, for patients who have already developed progressive lung damage or emphysema, a confirmed diagnosis may qualify them for intravenous augmentation therapy, a treatment that replaces the missing protein to help protect the lungs from further damage ^[18][19].