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Alpha 1-antitrypsin deficiency

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Alpha 1-antitrypsin deficiency



Lack of a protein which protects against inflammation, particularly in the lungs


Shortness of breath, wheezing, coarse lung sounds, crackling sound in stethoscope

Mortality Rate

Moderate over the long term


Avoidance of smoke, intravenous alpha 1-antitrypsin

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Alpha 1-antitrypsin deficiency is a genetic disease that can be inherited from either or both parents, with the symptoms being worse if the defective gene is inherited from both.  Alpha 1-antitrypsin is a protein that inhibits the function of some enzymes that, if allowed to work unabated, will cause inflammation in the lungs and the liver when other proteins build up within them.  

Symptoms are made worse if the lungs or liver are placed under unusual stress, such as smoking or drinking alcohol.  

Alpha 1-antitrypsin deficiency is a zebra diagnosis as it's primary symptom, difficulty breathing with unsual lung sounds, are a symptom of many more common lung conditions.  In addition, Alpha 1-antitrypsin deficiency often is found together with other conditions such as COPD and cirrhosis which can arise alongside normal risk factors that exacerbate the symptoms of the condition.  Diagnosis can usually be confirmed by testing Alpha 1-antitrypsin levels, which will be unusually low.

Most patients respond well to environmental and lifestyle changes.  However, in more developed countries, patients are also given Alpha 1-antitrypsin derived from blood plasma.

Alpha 1-antitrypsin deficiency is usually suggested by Robert Chase.  

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