Alpha-1 Antitrypsin Deficiency (Symptoms, Treatment, Life Expectancy) Center

Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the condition are at risk for developing serious lung and liver disease. Symptoms and signs of lung disease caused by this condition include:

The earliest symptoms and signs of lung disease usually develop between 20 and 50 years of age, and are

Other symptoms and signs of alpha-1 antitrypsin deficiency are:

  • Fatigue
  • Rapid heartbeat when going from sitting to standing
  • Recurring respiratory infections
  • Unintentional weight loss

Lung disease: People with this condition often develop emphysema, with symptoms of a hacking cough, barrel-shaped chest, and difficulty breathing. If you have this condition and smoke or are exposed to tobacco smoke, it accelerates the appearance of emphysema symptoms and lung damage.

Liver disease:
Alpha-1 antitrypsin deficiency also cause liver disease in some people with the condition, that include liver cancer, cirrhosis of the liver, an abnormally large liver (hepatomegaly), liver failure, and hepatitis. Liver damage from alpha-1 antitrypsin deficiency causes symptom of a swollen abdomen, swollen legs or feet, and jaundice.

Treatment of AATD depends upon the severity of symptoms. FDA approved drug for AATD is an orphan product called alpha-1-proteinase inhibitor (human), sold under the brand name "Prolastin."

Read more: Alpha-1 Antitrypsin Deficiency (Symptoms, Treatment, Life Expectancy) Article


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