Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is an inherited condition that can cause serious lung and liver disease. People with this condition produce a slightly abnormal form of the AAT protein.

Key Facts

  • Alpha-1 antitrypsin (AAT) is one of several proteins the liver produces and releases into the bloodstream. It helps prevent tissue damage in the lungs.
  • AAT deficiency prevents the liver from creating the AAT protein like normal. This makes the lungs more vulnerable to damage and harms the liver.
  • AAT deficiency is a genetic condition, which means it is passed down from parents. Although there is no cure, symptoms can be managed.

Causes

AAT deficiency is an inherited genetic condition, which means that it is passed down from one or both parents to their children. This is the only way to contract this condition.

Depending on the types of genes a child inherits, AAT levels can be normal, reduced, or entirely absent. Typically, AAT deficiency will be more severe when both parents pass it down.

Symptoms

Most people with AAT deficiency don’t develop symptoms until later in life, usually between the ages of 20 and 40. These symptoms may include:

  • Coughing up blood
  • Enlarged abdomen
  • Exhaustion
  • Fast heartbeat when standing
  • Jaundice (yellowing of skin and eyes)
  • Persistent lung infections
  • Poor vision
  • Weight loss
  • Wheezing and/or shortness of breath

Others may develop symptoms as newborns. These may include:

  • Bleeding from nose and/or umbilical stump
  • Enlarged liver and/or spleen
  • Fluid retention in abdomen
  • Poor weight gain
  • Yellow urine

Diagnosis

The following are the most common ways to diagnose AAT deficiency:

  • Blood Tests: These are used to determine the level of AAT protein in the blood, as well as the amount and type of AAT being produced.
  • DNA Test: This can be used to determine the specific type of AAT deficiency, which can help doctors determine its severity.
  • Imaging Tests: This will usually include a chest x-ray, which will allow doctors to look at how much damage there is. It may also include a computerized tomography (CT) scan of the lungs and an ultrasound of the liver.
  • Liver Biopsy: This is a surgical procedure that removes a tiny portion of liver tissue so that doctors can examine it under a microscope to determine what is wrong.

Because AAT deficiency is a genetic disease, family members may also be tested.

Treatment

Currently, there is no cure for AAT deficiency. But treatments are available to help manage this condition and reduce its symptoms. Depending on its severity, these may include the following.

If symptoms are minor and there is no visible lung or liver damage:

  • Dietary Changes: This includes reducing or eliminating alcohol consumption and taking vitamin supplements.
  • Lifestyle Changes: This includes quitting smoking, getting regular exercise, getting flu vaccines regularly, and taking other steps to remain healthy.
  • Regular Monitoring: Frequent examinations will make it easier for doctors to recognize and treat any changes in the lung or liver immediately.

If symptoms are more severe and/or there is visible lung or liver damage:

  • Supplemental Oxygen: If breathing becomes difficult, patients can get extra oxygen by breathing through a mask or nosepiece connected to an oxygen tank.
  • Augmentation Therapy: This therapy intravenously injects additional AAT protein into the patient’s bloodstream at least once per week. While it does not reverse damage, it can slow or stop additional damage.
  • Liver Transplantation: If the liver has been severely damaged, a transplantation may be necessary.

Outlook

AAT deficiency affects everyone differently. In those with few or moderate symptoms, treatment may help them successfully manage the condition. For those with more severe symptoms, AAT deficiency may lead to major life changes, including long-term therapy and surgery.

The mortality rate for AAT deficiency depends on a variety of factors, such as the severity of the condition, the age of the patient, and when they start treatment. However, it is relatively common for those with AAT deficiencies to experience additional health complications. This includes:

  • 10 percent of children contract severe liver disease
  • 30 to 40 percent of adults will have liver problems

In general, the earlier a diagnosis is made and treatment begins, the easier it is to manage the symptoms of AAT deficiency.

Next Steps

Columbia doctors and medical staff have experience diagnosing, treating, and managing every type of AAT deficiency. If you think you or someone you know may have this condition, call us at (877) LIVER MD/ (877) 548-3763 or use our online form to schedule an appointment.

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