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Alpha-1 Deficiency

 

What is Alpha-1 deficiency?

Alpha-1 antitrypsin deficiency, also known as Alpha-1, is a genetic disorder that causes low levels of a specific protein that protects your lungs. Alpha-1 increases your risk of developing certain diseases, such as emphysema or cirrhosis, some of which can be life-threatening.

What causes Alpha-1 deficiency?

Everyone has two sets of genes, one from each parent. Genes are the instructions for how your body functions that are passed down. Small differences in these genes are what determines things like your eye color, hair color, and how your body functions. Differences in a specific gene, called the SERPINA1 Gene, can cause Alpha-1 antitrypsin deficiency. 

The SERPINA1 gene is responsible for making the Alpha-1 (AAT) protein that protects your lungs from damage caused by another protein in your body. There are several differences, or mutations, in the gene that can change how your body produces AAT – whether making it less, incorrectly or none at all. Any of these mutations can cause you to have too little AAT in your lungs to protect them.

If both copies of your SERPINA1 gene have a mutation, this is the cause for Alpha-1 antitrypsin deficiency. If you have a mutation in only one of your genes, your body can typically make enough functioning AAT to protect your lungs. You are still at an increased risk for lung damage and can still eventually develop symptoms, especially if you smoke.

What are symptoms of Alpha-1 deficiency?

Symptoms of Alpha-1 deficiency are similar to those of (chronic obstructive pulmonary disease (COPD). These symptoms typically start between the ages of 30 and 50. The most common symptoms include:

  • Shortness of breath, especially during or following exercise.
  • Whistling or wheezing sound when breathing.
  • Chronic cough, often with mucus.
  • Extreme tiredness.
  • Frequent chest colds.

Although it is rare, some patients with Alpha-1 develop liver disease. The most common signs and symptoms of liver disease may include:

  • Yellowing of the skin and eyes, also known as jaundice.
  • Itchy skin.
  • Swelling in your legs or abdomen.
  • Throwing up blood.

How is Alpha-1 deficiency diagnosed?

Because the symptoms of Alpha-1 deficiency are similar to other lung conditions, your provider will diagnose your Alpha-1 deficiency a blood tests. If you display symptoms similar to liver disease or have a COPD diagnosis, other tests and procedures may be necessary:

  • Blood test – measures your levels of AAT to understand how well your liver is working.
  • Imaging – can show signs of Alpha-1 in your lungs and rule out other conditions.
  • Pulmonary function tests – measures your lung function.
  • Liver ultrasound – detects liver scarring.

How is Alpha-1 deficiency treated?

The most common treatment for Alpha-1 is treatment with COPD medications and therapies, including bronchodilators and pulmonary rehabilitation. If your AAT has caused emphysema, augmentation therapy may be recommended. Augmentation therapy delivers normal Alpha-1, collected and purified from blood donors. Other forms of treatment include:

  • Medication – inhaled corticosteroids and bronchodilators can make it easier to breathe by reducing inflammation and opening your airways.
  • Oxygen therapy – if your oxygen levels are low, you may be prescribed supplemental oxygen to assist in delivering oxygen to your lungs via a mask on your face.
  • Smoking cessation therapy – your provider can provide you with ways to help you to stop smoking.
  • Lung transplant – if your lungs are severely damaged, a healthy lung can help improve quality of life.
  • Liver transplant – for those with a badly scarred liver, your provider may recommend a liver transplant.

How can I prevent Alpha-1 deficiency?

Because Alpha-1 is genetic, there is no true prevention of it. However, there are certain things you can do to help prevent your risk of organ damage and other complications:

  • Don’t smoke or vape.
  • Avoid lung irritants.
  • Avoid alcohol use, especially if you have liver damage.
  • Consult your provider before taking certain medications.
  • Get vaccinated.
  • Genetic testing.

What are risk factors of Alpha-1 deficiency?

Some people with Alpha-1 never have symptoms or organ damage, especially if they don’t smoke. Others can experience life-threatening complications, such as:

  • Progressive lung conditions, such as COPD.
  • Permanent damage to your airways.
  • High blood pressure.
  • Liver scarring.
  • Liver cancer.
  • Heart, liver or respiratory failure.

People who have Alpha-1 will experience different life expectancies. While some will have a normal life, others will experience complications. See your provider if you have symptoms of Alpha-1 or if a family member has Alpha-1. Early diagnosis is important for preventing serious complications.