Alpha-1 Antitrypsin Deficiency

Definition

Alpha-1 antitrypsin deficiency is an inherited metabolic disease that causes damage to the liver and lungs.

Symptoms

  • Shortness of breath
  • Jaundice
  • Liver failure
  • Early emphysema

Reasons

SERPINA1 gene mutation.

Diagnosis

Alpha-1 antitrypsin level, genetic testing.

Treatment

Alpha-1 antitrypsin replacement, supportive care.

Which Polyclinic Should You Apply To?

Chest Diseases Polyclinic

What to Do in an Emergency?

In case of respiratory failure, emergency services should be consulted.

This page is for general information purposes only.