Alpha-1 antitrypsin deficiency

Alternative names

AAT deficiency

Definition

Alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease.

Causes, incidence, and risk factors

Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known, however some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk.

Symptoms

• Shortness of breath with and without exertion
  
• Unintentional weight loss
  
• Wheezing
  

Additional symptoms that may be associated with emphysema or Cirrhosis include the following:

• Abnormal breathing pattern (exhalation takes more than twice as long as inspiration)
  
• Agitation
  
• Ankle, feet, and leg swelling
  
• Awakening from sleep not feeling rested
  
• Bloody or dark black or tarry bowel movements (melena)
  
• Breast development in males
  
• Confusion
  
• Daytime sleepiness
  
• Difficulty falling asleep or staying asleep (Insomnia)
  
• Difficulty paying attention
  
• Dry mouth
  
• Excessive thirst
  
• Fatigue
  
• Fluctuating mood
  
• headache
  
• Impaired concentration
  
• Impaired judgment
  
• Impotence
  
• Increased front-to-back diameter of the chest (barrel-shaped chest)
  
• Irritability or poor temper control