Alpha-1-Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency?

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Clinical Aspects

 

Alpha-1 antitrypsin deficiency can lead to destruction of the air sacs in the lungs (alveoli), resulting in pulmonary emphysema.

 

If this condition is present, the air sacs are no longer able to carry out gas exchange and absorb sufficient oxygen from the air. The body then receives an inadequate supply of oxygen. This is manifested by shortness of breath, known as dyspnea.

  

                               

                              

First symptoms of alpha-1 pulmonary emphysema develop between the age of 30 and 40, initially exercise-induced dyspnea and later in many cases cough and sputum production. These signs may appear around ten years earlier in smokers with alpha-1 antitrypsin deficiency (in comparison to non-smokers).

The same symptoms may also occur in other lung diseases (COPD, asthma). Because of this, alpha-1 antitrypsin deficiency is often diagnosed too late.

 

 

 

    

   

What signs and symptoms are characteristic of lung disease associated with alpha-1 antitrypsin deficiency?  

  • Exercise-induced dyspnea
  • Wheezing
  • Cough and sputum production (bronchitis)
  • Frequent respiratory infections or pneumonia
  • Low exercise capacity, e.g. during sport activities, while climbing stairs or carrying heavy objects
  • Asthma that does not respond to treatment
  • Occurrence of bronchiectasis (sac-like distensions of the bronchi)
  • A family history of lung or liver disease
  • Any additional stress on the lungs, e.g. an infection or especially smoking, accelerates the destruction of the lungs

 

Other diseases that may occur in association with alpha-1 antitrypsin deficiency:

  • Liver cirrhosis (accumulation of defective alpha-1 antitrypsin in liver cells)
  • Skin disease (panniculitis)