Alpha-1 affects multiple organs

Alpha-1-antitrypsin (A1AT) deficiency (also known as alpha-1) is a genetic disease that leads to a decrease in circulating levels of A1AT.1 Alpha-1 significantly increases the risk of:

  • Serious lung disease in adults (eg, emphysema)1
  • Liver diseases such as cirrhosis in infants, children, and adults with Pi ZZ and Z allele combination1
  • Necrotizing panniculitis, a rare skin disease2
  • Wegener's disease (vasculitis)

A1AT plays a critical role in protecting the lungs3

  • A1AT has potent protease inhibitor activity
  • The main function of the A1AT is to protect normal lung tissue from proteolytic attack during inflammation. This inflammation may result from:
    • Lung infection
    • Inhalation of environmental pollutants or tobacco smoke
 

Endogenous A1AT inhibits elastase function, helping to preserve lung structure

Liver disease in alpha-1

People with the Pi ZZ and Z allele combination sometimes develop liver disease because the protein product of the mutant allele forms large polymers, accumulates in the hepatocytes and causes cellular injury and death.4

The presentation of alpha-1 mediated liver disease can range from chronic hepatitis to cirrhosis to, in rare cases, fulminant hepatic failure.4

  • In infants, alpha-1 mediated liver disease may present as cholestatic jaundice
  • Infants and children with the disease may also be diagnosed with unexplained failure to thrive or poor appetite
  • People of any age with alpha-1 may present with unexplained, asymptomatic hepatomegaly, elevated liver enzymes, unexplained liver disease, cirrhosis, or hepatocellular carcinoma

Alpha-1 is a genetic disorder. Consider testing the whole family

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References

  1. Alpha-1 Foundation. What is Alpha-1? http://alpha-1foundation.org/what-is-alpha-1/. Accessed July 14, 2016.
  2. Alpha-1 Foundation. Alpha-1 Panniculitis. http://alpha-1foundation.org/alpha-1-panniculitis. Accessed July 14, 2016.
  3. Köhnlein T, Welte T. Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. Am J Med. 2008;121:3-9.
  4. Bals R, Kohnlein T. Alpha-1 Antitrypsin Deficiency. Pathophysiology, Diagnosis, and Treatment. Stuttgart: George Thieme Verlag KG; 2009.

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