Chronic Obstructive Pulmonary Disease

Alpha-1 Antitrypsin Deficiency

Mayo Clinic is a leading center for treatment of and research on Alpha-1 antitrypsin (AAT) deficiency, the genetic form of emphysema. AAT, a protein predominantly made in the liver and secreted into the blood stream, helps protect the lungs. AAT deficiency affects the liver in most infants and children who have this disorder.

Lung disease is the most frequent cause of disability and early death among adults affected by the disease. It is also a major reason that patients undergo lung transplants. AAT deficiency can lead to lung destruction and is often misdiagnosed as another form of Chronic Obstructive Pulmonary Disease (COPD) or asthma. The World Health Organization (WHO) recommends that all individuals with COPD, as well as adults and adolescents with asthma (an estimated 30 million Americans), be tested for AAT deficiency.

The abnormal protein can also accumulate in the liver and lead to liver failure. It is the leading genetic cause of liver transplantation in children.

Diagnosis

AAT deficiency can be detected with a simple blood test. Other tests to confirm the severity of the disease include pulmonary function tests, chest X-rays and chest CT scans. The most common signs and symptoms of AAT deficiency are:

• Family history of lung disease or liver disease
• Recurring respiratory infections
• Shortness of breath or awareness of one's breathing
• Rapid deterioration of lung function without a history of significant smoking
• Decreased exercise tolerance
• Chronic liver problems
• Nonresponsive asthma or year-round allergies
• Elevated liver enzymes

Treatment

For adults, the treatment options for AAT are the same as those for COPD. It is especially important that patients with AAT do not smoke. AAT patients who show signs of developing emphysema can be treated with protein replacement. There are three commercial protein replacement products approved by the FDA, each an intravenous preparation given once per week and obtained from pooled human serum. The goal of this treatment is to prevent further damage to the lungs. Patients should be immunized against hepatitis for this treatment.

Research

Learn about research being done on alpha-1 antitrypsin.