Alpha-1 antitrypsin deficiency is a genetic inherited condition that can cause lung and liver damage. Carriers (those with only 1 copy of the abnormal gene) have mild or no symptoms. The abnormal alpha-1 antitrypsin protein (AAT) is found in the pulmonary system (lungs) and bloodstream, it protects the lungs from inflammation, infection, and lung diseases like COPD and emphysema.

This deficiency increases your risk of liver and lung disease at an earlier age. Elastase, an enzyme that fights infection, does not turn off without enough AAT. This can lead to elastase breaking down the protein making up your lungs, making it harder to breathe and get enough oxygen. AAT also builds up in the liver to abnormal levels, scarring it.

Signs/Symptoms

Symptoms or conditions may include: 

  • Shortness of breath
  • Chronic cough with phlegm/sputum production
  • Wheezing
  • Itchy skin
  • Chest pain that increases when breathing in
  • Decreased exercise and low energy or tiredness
  • Recurring respiratory infections
  • Family history of lung disease

Your liver is affected by AAT deficiency; symptoms may include:

  • Jaundice (Yellowing of the skin and eyes)
  • Itchy skin
  • Loss of appetite
  • Weight Loss
  • Swelling in your legs or abdomen 
  • Vomiting of Blood
  • Blood in stools

Testing and Diagnosis

You should consult your doctor if you have any symptoms, especially if you have a family history of liver or lung disease. The sooner you receive a diagnosis, the more effective your lifestyle and treatment options are.

Tests and procedures your provider might perform include:

  • Blood tests to measure the levels of AAT are the only diagnostic test. If you have low levels of AAT, they will perform genetic testing to identify genetic differences associated with Alpha-1. You may be tested for Alpha-1 if you have liver symptoms or have received a COPD diagnosis. 
  • X-ray and CT scan imaging can show signs of Alpha-1 in your lungs and rule out other conditions. These tests can show the location of the damage.
  • Pulmonary Function Tests can’t diagnose Alpha-1, but they can measure your lung capacity. This test involves breathing into a machine that measures your lung function.
  • A doctor performs a liver ultrasound or elastography that checks your liver to determine if there is scarring.
  • A liver biopsy is performed to determine liver damage, and a doctor may take a small tissue sample from your liver to determine the damage.

Treatment

Treatment options that can reduce your risk of lung damage include:   

  • Augmentation therapy – you receive infusions of additional AAT from donor plasma to raise your levels to normal.
  • Bronchodilators and inhaled corticosteroids can assist in breathing easier by reducing inflammation and opening your airways.
  • Pulmonary rehabilitation involves breathing exercises and physical therapy that makes breathing easier.
  • Supplemental oxygen therapy when your oxygen levels are low, a machine delivers oxygen to your lungs through a mask while you breathe.
  • Lung or liver transplants may be recommended if your liver or lungs are severely damaged, and receiving a healthy organ through a transplant can help improve your quality of life.

Resource

Alpha-1 Canada