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Alpha 1 Antitrypsin Deficiency

Alpha-1, or AAT deficiency, is a hereditary disorder characterized by low levels of alpha-1 antitrypsin, a protein in the blood. This protein protects the tissue of the body from being digested by enzymes released from inflammatory cells. A deficiency of this protein can result in life-threatening liver disease in children and adults, as well as lung disease in adults. 

Alpha-1 is widely under-diagnosed. Of the 100,000 individuals in the United States estimated to have this condition, only about 10 percent have been identified. Many times, the symptoms are misdiagnosed as chronic obstructive pulmonary disease (COPD) or even asthma. 

Alpha-1 can be detected by a simple test that determines the level of AAT in the blood. Some of the most common signs of Alpha-1 include, but are not limited to, the following symptoms:

  • Shortness of breath
  • Recurring respiratory infections or chest colds
  • Cough with or without mucus
  • Wheezing
  • Non-responsive asthma or year-round allergies
  • Decreased exercise tolerance
  • Increased supplemental oxygen needs

  • Abdominal swelling and/or leg swelling
  • Jaundice (yellowing) of the eyes and skin
  • Unexplained liver problems and/or elevated liver enzymes
  • Intense itching
  • Dark urine
  • Pain or tenderness in the upper right abdomen

  • Hardened skin with painful patches or lumps (panniculitis)

Current Alpha-1 inhibitor drug therapies at Accredo are as follows:


Alpha-1 proteinase inhibitor is approved by the FDA for the treatment of Alpha-1. Studies indicate Alpha-1 proteinase inhibitor is an effective treatment for Alpha-1 because it increases the blood levels of alpha-1 antitrypsin (AAT). This protects the lung tissues from damage caused by enzymes released from white blood cells.

For questions concerning your Alpha-1 therapy, please gives us a call at 1 866 6-ALPHA1 (1 866 625-7421).

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