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Diagnosing Alpha-1 Antitrypsin Deficiency

Whether you have alpha-1 deficiency, and what genotype you have, can be determined by performing a simple blood test. Here’s all you need to about how this rare disease is diagnosed. Also reported on here is why it is so important to get that diagnosis.4-5

How is alpha-1 deficiency diagnosed?

It’s a simple blood test. In fact, you can send for a kit and do it in the comfort of your own home.

A sample of your blood is sent to a lab. A machine determines if you have a deficiency of alpha-1 antitrypsin in your blood. A low antitrypsin level is usually considered 57 mg/dl. The test can also determine what genotype you have.1, 5-6

So, some people may experience no symptoms. They may not present with emphysema nor kidney disease. However, it is one of the few causes of emphysema before the age of 40. The most common age of diagnosis is in the 30s.1

However, it may be diagnosed even in infancy. In fact, there is one alpha-1 genotype that may cause liver disease as early as infancy. This happens in about 10% of cases. Some of these infants may also develop cirrhosis of the liver.2

In adults, regular tests for COPD may help diagnose the emphysema component. The most common test is a pulmonary function test. This may show airflow limitation that is not reversed with treatment. This may confirm a diagnosis of COPD. However, the test may also show airflow limitation that is reversible, and this may confirm a duo diagnosis of asthma.1

There may also be other tests to confirm a diagnosis of emphysema and kidney disease. If you’re interested in learning more on this subject, you can read our post, “How is COPD diagnosed?

Why is it important to get tested for alpha-1 deficiency?

Again, some people with the gene experience no symptoms. They may not have a diagnosis of emphysema or liver disease. But, knowing they have the alpha-1 gene can assure that they are doubly encouraged by their doctors not to start smoking, or to stop smoking if they do smoke. This is important, because smoking may cause people with this gene to develop emphysema and COPD faster than most people who smoke. So, it’s important not to smoke.1

They can also be monitored on a regular basis for signs of emphysema or liver disease. This may involve annual x-rays and pulmonary function tests, which are the standard tests for diagnosing lung disease and monitoring disease progression.

Those who have emphysema and/ or kidney disease can get proper treatment. The emphysema component is generally treated with COPD medicines, such as inhalers. It may also be treated with pulmonary rehabilitation. Some patients will qualify for alpha-1 replacement therapy. This is done by having an IV inserted. Alpha-1 is then inserted into the bloodstream.

There are also tests for monitoring kidney function and diagnosing kidney disease. As appropriate, certain medicines may be prescribed for treating this component.

Why alpha-1 antitrypsin deficiency awareness matters

Alpha-1 antitrypsin deficiency is rare. But, it is also undiagnosed in most people who have it. This is a key reason why awareness of this is so important. It is recommended that anyone with a family history of this is tested. It is also recommended that anyone with a family history of COPD is tested. It is also recommended that you be tested if you have a diagnosis of asthma or COPD. It is very important that you be tested for this if you meet the above criteria. It’s important even if you already have COPD. The reason is that a proper diagnosis can lead you and your physician to more treatment options. This is all in our quest to help people breathe easier, and live better and longer despite a diagnosis of COPD.

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The COPD.net team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

  1. Brode, Sarah K., Simon C. Ling, Kenneth R. Chapman, “Alpha-1 antitrypsin deficiency: A commonly overlooked cause of lung disease,” Canadian Medical Association Journal, 2012, Sept. 4, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447047/, accessed 4/21/19
  2. “Alpha-1 Antitrypsin Deficiency Symptoms and Treatment,” UPMC Children’s Hospital, http://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/alpha-1-antitrypsin-deficiency, accessed 4/21/19
  3. ELANE gene, genecards, https://www.genecards.org/cgi-bin/carddisp.pl?gene=ELANE, accessed 4/21/19
  4. “What is alpha-1?” Alpha-1 Foundation,” https://www.alpha1.org/what-is-alpha1, accessed 4/21/19
  5. “Alpha-1 Antitrypsin,” AACC Lab Tests Online, https://labtestsonline.org/tests/alpha-1-antitrypsin, accessed 4/21/19
  6. Diagnosing and treating alpha-1 deficiency,” American Lung Association, https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/diagnosing-treating-alpha-1.html, accessed 4/21/19

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