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Everything You Need to Know About Alpha-1 Antitrypsin Deficiency

July 19, 2019

Plasma is a yellow liquid component of blood that contains life-saving proteins. The proteins in plasma can help treat a number of rare autoimmune diseases. One such disease is alpha-1 antitrypsin (AAT) deficiency.

In today’s blog, we’ll be unpacking everything you need to know about alpha-1 and the important role plasma plays in treating this disease.

What Are the Causes of Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is a genetic disorder that is passed down from parents to children when both parents carry abnormal genes. An alpha-1 antitrypsin deficiency occurs when mutations in the SERPINA1 gene, a gene that provides instructions for making alpha-1 antitrypsin proteins, occur.

The alpha-1 protein is essential to good health as it protects the body from neutrophil elastase, a powerful enzyme that gets released from white blood cells to fight infection. When neutrophil elastase is not controlled by alpha-1, it can attack normal tissues.  

What Are the Symptoms of Alpha-1 Antitrypsin Deficiency?

Symptoms and signs of alpha-1 can vary greatly among individuals. Some people living with the condition get their first symptoms in childhood, while others don’t experience any symptoms until they are 60 years old. The organs that are most commonly affected by AAT deficiency are the liver, lungs, and skin.

Here are the symptoms those with an alpha-1 deficiency may experience according to affected organs:

  • Liver: Fatigue, swelling of belly or legs, loss of appetite and weight loss, jaundice (yellow discoloration of the skin or eyes), blood in stool, and/or vomiting blood.
  • Lungs: Numerous lung infections, excessive coughing and phlegm production, wheezing, shortness of breath, and/or low energy.
  • Skin: Painful lumps under skin that are warm to the touch.

An alpha-1 antitrypsin deficiency may eventually cause liver disease or lung disease.

How is Alpha-1 Antitrypsin Deficiency Diagnosed?

Alpha-1 antitrypsin deficiency is typically diagnosed by a doctor that will check for signs your lungs aren’t working correctly and ask about other common symptoms of the disease. A blood test that checks for mutations in the SERPINA1 gene and levels of protein in the bloodstream is needed to confirm an AAT deficiency diagnosis.

How is Alpha-1 Antitrypsin Deficiency Treated?

There is no cure for alpha-1 antitrypsin deficiency, but the disease can be managed via augmentation therapy (or “replacement therapy”). In augmentation therapy, plasma from healthy donors is used to increase levels of alpha-1 in the blood and lungs of those who have the condition. Plasma protein is administered through intravenous infusion on a weekly basis.

The goal of augmentation therapy is to slow or stop damage to affected organs. The therapy cannot reverse damage already incurred, but it can improve quality of life. Alphas have to undergo these treatments throughout the rest of their life.

The importance of having enough plasma to treat those living with conditions like alpha-1 cannot be emphasized enough. More than 900 plasma donations are required each year to treat one Alpha-1 patient. At Canadian Plasma Resources, we do everything in our power to provide the plasma needed for these lifesaving treatments. Not only do our donors leave our centres with the satisfaction of knowing they’ve saved a life, they are also compensated for their time.

Book your next appointment today!