Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition that causes liver disease and lung disease.

Alpha-1 antitrypsin is a protein that is mostly produced in the liver. It helps to protect the lungs from neutrophil elastase, an enzyme that normally digests damaged or aging cells and bacteria to promote healing.

Normally, alpha-1 antitrypsin trap and destroy neutrophil elastase before the enzyme can attack the lungs. When there is a shortness of alpha-1 antitrypsin, the enzyme goes unchecked and attacks the lung.

What are the symptoms of Alpha–1?

The most common signs or manifestations of Alpha-1 in the lungs include:

  • Shortness of breath
  • Wheezing or non-responsive asthma
  • Chronic bronchitis
  • Recurring chest colds

The most common signs of Alpha-1 in the liver include:

  • Unexplained liver disease
  • Yellowing of the eyes and skin
  • Swelling of the abdomen or legs
  • Vomiting blood

What causes Alpha-1?

Alpha-1 is inherited from one’s parents. For each trait a person inherits, they receive one gene from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes, one from each parent.

Testing for Alpha-1

Typically, to determine if someone has Alpha-1, a blood test is conducted. The blood will be tested for the alpha-1 antitrypsin levels in the blood.

How does Alpha-1 affect the pulmonary system?

Alpha-1 antitrypsin protects the lungs from an enzyme that digests bacteria and other foreign objects in the blood called neutrophil elastase. When someone who has an alpha-1 antitrypsin deficiency inhales irritants such as smoke, or contracts a lung infection, the neutrophil elastase will begin to destroy their healthy lung tissue. This will eventually lead to emphysema, a lung disease caused by the destruction of the small air sacs that create the walls of the lung.

When the lung tissue is destroyed, airways become unstable and airflow is compromised Emphysema will eventually impair lung function so the lungs can no longer bring sufficient oxygen to the bloodstream nor excrete carbon dioxide.

How is Alpha-1 treated?

When Alpha-1 begins to destroy the lungs, augmentation therapy, also called replacement therapy becomes the main form of treatment. Augmentation therapy uses alpha-1 antitrypsin protein from the blood plasma of healthy donors to increase alpha-1 levels of those diagnosed with emphysema. Augmentation therapy is administered once a week through a blood infusion and is considered the only specific therapy for Alpha-1.

Alongside augmentation therapy, treatment may include environmental control, antibiotics, an immunization program, exercise and potentially oxygen. In extreme cases where end-stage lung disease is present, patients may be advised to receive a lung transplant.

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