Alpha-1-Antitryspin Deficiency

Alpha-1-Antitryspin Deficiency is a genetic disorder that begins to show symptoms in the lungs of people between the ages of 20-50 years old. Relatively rare, the genetic mutation impacts approximately one in every 3,500 Americans of European dissent.

The chronic cough and shortness of breath have led to the disorder being called “hereditary emphysema” and is sometimes misdiagnosed as COPD or congestive obstructive pulmonary disorder. The disease process is made worse by smoking, exposure to chemicals and dust. Smokers with this condition are much more likely to develop lung cancer.

About 10% of Infants carrying the disorder will show signs of liver trouble by the age of one with jaundice symptoms (yellowing of the skin and eyes). About 15% of adults will also develop liver damage with scarring or cirrhosis of the liver presenting with swollen bellies, feet and legs and yellowing of the skin and eyes.