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Alpha-1 Antitrypsin Deficiency (AATD)

AATD is a hereditary disorder characterized by a lack of the alpha-1 antitrypsin protein in the blood. This protein protects the lungs from inflammation caused by infection or irritants, such as tobacco smoke. The lack of this protein occurs when the liver cannot release the protein at a normal rate, causing an abnormally low level of the protein in the lungs, but an excess in the liver. This can lead to liver and lung disease.

Symptoms of AATD

Alpha-1 antitrypsin deficiency is often under recognized. Patients with the disorder may have symptoms in both the lung and the liver.

Lung symptoms

  • shortness of breath
  • wheezing
  • chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time
  • recurring chest colds
  • less exercise tolerance
  • asthma that can’t be completely reversed with aggressive medical treatment
  • year-round allergies
  • bronchiectasis

Liver symptoms

  • unexplained liver disease or elevated liver enzymes
  • eyes and skin turning yellow (jaundice)
  • swelling of the abdomen (ascites) or legs
  • vomiting blood (from enlarged veins in the esophagus or stomach)

Beaumont’s Alpha-1 Clinical Resource Center

Beaumont’s Alpha-1 Clinical Resource Center offers a comprehensive program for patients with alpha-1 antitrypsin deficiency (AATD) and their families. The program includes confidential genetic testing for families, as well as diagnosis and treatment for patients with AATD.

Patients benefit from the expertise of highly skilled and experienced Beaumont professionals, all available in one convenient location. The team includes pulmonologists and specialty nurses working in close collaboration with experts in gastroenterology, pharmacy, respiratory therapy and other disciplines.

Testing Guidelines

According to the American Thoracic Society, the following individuals should be tested for AATD:

  • adults with symptomatic emphysema or COPD (regardless of age or smoking history)
  • adults with asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilators
  • asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors (e.g. cigarette smoking, occupational exposure)
  • adults with necrotizing panniculitis
  • parents and siblings of individuals with AATD
  • individuals with unexplained liver disease, including children and adults, particularly the elderly

Management

Through Beaumont’s Alpha-1 Center, patients have access to treatment and services including:

  • exacerbation management
  • augmentation therapy
  • pulmonary rehabilitation
  • smoking cessation