What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is an inherited condition that causes insufficient or abnormal production of an essential protein. People with the disorder are at risk of developing potentially life-threatening lung and liver diseases. Treatment depends on the nature and severity of symptoms, but a combination of lifestyle changes, medication, and surgery is often needed to manage lung and liver complications. In addition, some patients receive regular blood transfusions or protein replacement injections to increase alpha-1 antitrypsin levels in the body.

A healthy body produces high levels of alpha-1 proteins that help protect tissue from normal autoimmune responses. When an infection or an irritant such as cigarette smoke enters the body, the immune system releases neutrophil elastase (NE) enzymes to combat the dangerous invaders. NE is very effective at fighting off foreign pathogens, but it can also incidentally damage healthy tissue in the lungs, liver, and elsewhere in the body. Alpha-1 proteins limit NE effects on healthy tissue. A person who has alpha-1 antitrypsin deficiency is defenseless against NE, and recurring infections, injuries, or irritants can lead to permanent tissue damage.

Symptoms of alpha-1 antitrypsin deficiency can set in at any age, but problems usually become prevalent between the ages of 20 and 50. The first signs of lung involvement may include shortness of breath during physical activity, wheezing, coughing, and fatigue. Over time, symptoms tend to worsen to the point where exercising or working become nearly impossible due to chest pain and constant coughing. If the liver is affected by alpha-1 antitrypsin deficiency, a person may notice a yellow tint to the skin and eyes that are characteristic of jaundice.

Diagnosing alpha-1 antitrypsin deficiency can be difficult because the symptoms are similar to other more common disorders. Doctors frequently mistake the condition for chronic obstructive pulmonary disease, hepatitis, or an acquired form of cirrhosis. X-rays and computerized tomography scans are performed to gauge the severity of lung or liver damage. The actual diagnosis may not be made until routine laboratory blood and bile screenings may reveal abnormally low levels of alpha-1 proteins.

Once a deficiency has been confirmed, specialists can determine the most appropriate treatment measures. The primary goal of treatment is to delay the onset of serious lung and liver problems with blood pressure medications, bronchodilators, and dietary supplements. Doctors insist that patients who smoke quit immediately to reduce their risk of emphysema. Surgical repair or transplants are needed in the case of lung or liver failure.

Patients who are not at risk of immediate organ failure are often placed on a regular course of alpha-1 replacement infusions. Weekly blood transfusions or injections of synthetic alpha-1 can help maintain adequate levels of the protein. Since the disorder cannot be cured, regular treatment is usually needed for life.