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Uncover how Alpha‑1 is diagnosed

Could it be Alpha‑1?

Only your doctor can know for sure, but if you have unexplained lung, liver, or certain skin conditions or a family history with Alpha‑1 antitrypsin deficiency (Alpha‑1, for short), you should talk with your doctor about Alpha‑1 testing. Earlier diagnosis can help lead to better management options.

Who should get tested for Alpha‑1?

Your healthcare provider may want to test for Alpha‑1 if you have any of the following:

Son diagnosed icon.

Immediate family member (parent, sibling, child) that has been diagnosed with Alpha‑1

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Chronic obstructive pulmonary disease (COPD) or emphysema with no known underlying health risk or condition

Inhaler icon.

Chronic, uncontrolled asthma, bronchitis, or year-round allergies

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Liver disease without any known causes

Skin condition arm.

Sometimes, a skin condition called necrotizing panniculitis—raised, tender skin spots that form ulcers

The importance of testing for Alpha‑1

Since Alpha‑1 is genetic, testing for this condition may provide valuable information to both you and your family.

Video thumbnail of Jim, a real Alpha-1 patient.
The earlier you understand, the earlier you can put a plan in place for it.
-Jim, living with Alpha-1

What does it mean if a family member has the Alpha‑1 gene? Learn more about genetics.

How do you test for Alpha‑1?

It starts with a discussion with your doctor or healthcare provider. In addition to a health assessment, they may ask about your family history. This is because Alpha‑1 runs in families, which means it’s genetic.

Your doctor may order a simple, quick blood test that can be done at your doctor’s office. The test gives information about your Alpha‑1 genes, which are instructions made up of DNA that your body uses to create Alpha‑1 antitrypsin proteins. Different forms or versions of a gene are called alleles. Each person inherits one allele from their father and one from their mother.

An Alpha‑1 blood test
can be used to learn:

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The amount of Alpha‑1 antitrypsin protein in your blood

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If the Alpha‑1 antitrypsin protein amount or type is abnormal

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The type of Alpha‑1 genes, or alleles, you inherited (called your genotype*)

If results show low Alpha‑1 antitrypsin protein levels or abnormal alleles, your healthcare provider may do additional testing. This may include pulmonary function testing (PFT) to determine the health of your lungs. PFT typically measures lung volume and uses a breathing test called spirometry. This test measures how much air you can breathe in and out of your lungs, as well as how easily and fast you can blow the air out of your lungs.

If you’re wondering about testing costs, check with your insurance provider—many cover Alpha‑1 testing if it’s deemed medically necessary.

*People have 2 alleles for each gene, with 1 allele inherited from each parent. Each pair of alleles represents the genotype of a specific gene. For example, someone may have an Alpha‑1 genotype labeled as MM. The MM genotype shows that this person has 2 normal (M) alleles and therefore does not have Alpha‑1.

The path to diagnosis with Alpha‑1

Navigating the path to Alpha‑1 diagnosis can be different for everyone. Watch Jim and Julie share their unique stories.

Video thumbnail of Julie, a real Alpha-1 patient, talking about her journey to diagnosis.
I really didn’t think I had Alpha-1, but I was becoming more and more out of breath.
-Julie, living with Alpha-1
Woman talking with a friend depicting how support for Alpha-1 patients is important.

What if I am diagnosed with Alpha-1?

How to manage Alpha‑1

Are there other people like me?

Find Alpha‑1 support
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Reviewed by Takeda MARCH 2022.