Alpha-1 antitrypsin (A1AT) deficiency is a genetic condition that affects the liver’s ability to produce Alpha-1 antitrypsin (AAT). AAT is a protein produced by the liver that protects the lungs against inflammation caused by smoke or other irritants.
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What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (AATD) is a genetic disease that can lead to severe lung and liver disease. The liver produces a protein known as alpha-1 antitrypsin (A1AT), which helps protect the lungs from inhaled irritants like tobacco smoke. Without this important protein, the lungs are left susceptible to damage.
Alpha-1 antitrypsin (AAT) is secreted from the liver into the bloodstream. If you are deficient in this protein, it is still produced by the liver, but it remains trapped there. This increase in AAT in the liver can also cause liver damage.
Most people who have A1AT do not experience any symptoms. People with this deficiency may end up with serious lung diseases like COPD or emphysema.
Having this condition means you received two abnormal genes — one each from your father and your mother. If you have this condition but your parents do not, it means they both inherited one faulty gene and one normal gene.
How common is alpha-1 antitrypsin deficiency?
Around 1 in 2,500 people worldwide have an A1AT deficiency
What causes alpha-1 antitrypsin deficiency?
A1AT deficiency is an inherited disorder. That means you're much more likely to have it if you have a family history of the disease.
A1AT deficiency is most common among white people of European descent, but it occurs in all races and ethnic groups.
What are alpha-1 antitrypsin risk factors and complications?
Alpha-1 AT deficiency can cause serious, even fatal, complications if left untreated, such as:
- Asthma.
- Cirrhosis of the liver.
- COPD.
- Emphysema.
- Respiratory failure.
- Vasculitis.
What Are the Signs and Symptoms of Alpha-1 Antitrypsin Deficiency?
Many people who have AATD have no symptoms at all; others show symptoms between the ages of 20 and 40.
Symptoms include:
- Rapid heartbeat, especially when you first stand up.
- Shortness of breath, especially when active.
- Whistling or wheezing sound in the lungs.
- Unexplained fatigue.
- Unexplained weight loss.
Asymptomatic people might show signs of liver failure if left undiagnosed, including:
- Loss of appetite.
- Swollen legs or belly.
- Yellowish tint to skin or eyes (jaundice).
When should I see a doctor about my alpha-1 antitrypsin deficiency symptoms?
As this condition can be asymptomatic, it is something that can often be found in routine blood tests. You should see your doctor if you are experiencing the symptoms of AATD.
How Do You Diagnose Alpha-1 Antitrypsin Deficiency?
Doctors use the following tests to diagnose A1AT deficiency.
Tests to diagnose alpha-1 antitrypsin deficiency
- Biopsy — If your doctor has concerns about potential liver damage, they will remove a small piece of your liver to examine it.
- Blood test — Checks the level of alpha-1 antitrypsin protein in your blood. If that level is lower than normal, you probably have A1AT deficiency.
- Genetic test — Finds the defect in the alpha-1 antitrypsin gene and confirms the results of the blood test.
- Ultrasound — Imaging test that uses sound waves or other ultrasonic frequencies to create an image of your liver.
How Do You Treat Alpha-1 Antitrypsin Deficiency?
Doctors can't currently cure A1AT deficiency, but they can treat the symptoms and try to slow down any organ damage.
Your doctor will design treatment goals for you based on your symptoms and specific needs.
If you develop severe liver cirrhosis, you may need a liver transplant.
Lifestyle
You can take several steps to help keep your liver healthy.
You should:
- Avoid alcohol.
- Eat a balanced diet, including plenty of fresh fruits and veggies.
- Get vaccines for hepatitis A and B.
- Lose weight if needed.
- Quit smoking.
- Take vitamins D, E, and K with your doctor's approval.
- Talk to your doctor before using any over-the-counter supplements.
Medicine
The most common treatment for this disease is A1AT augmentation therapy.
You can receive the A1AT protein (collected from donated blood) through an IV. This infusion therapy raises the level of the protein in your lungs and helps slow down lung damage.
Surgery
If you have severe liver cirrhosis from A1AT deficiency, you may need a liver transplant.
Liver transplant is a major operation in which doctors remove your diseased liver and replace it with a healthy liver from a deceased donor or a healthy lobe from a living donor.
Is alpha-1 antitrypsin deficiency treatment right for me?
The objective of treatment for AATD is to slow the effects of the deficiency’s harm on the liver and lungs. Treatment is most effective when the condition is caught early and the symptoms can be kept in check.
If the condition of your liver has been compromised, treatment effectiveness can depend on the severity of your condition and the availability of a transplant.
