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Dr. Andrew Rynne
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Article Home Adult and Senior Health A1AT Deficiency

A1AT Deficiency

Alpha 1-antitrypsin deficiency is a genetic disorder caused by defective production of alpha 1-antitrypsin leading to decreased A1AT activity in the blood and lungs and resulting in deposition of excessive abnormal A1AT protein in liver cells

Alpha 1 antitrypsin is produced in liver and it main function is to protect the lungs from neutrophil elastase enzyme, which can disrupt connective tissue. Cigarette smoke is harmful to individuals with A1AD. It causes increasing inflammatory reaction in the airways, cigarette smoke directly inactivates alpha 1 antitrypsin by oxidizing essential methionine residues to sulfoxide forms decreasing the enzyme activity by a factor of 2000.

Severe defeciency of A1A causes panacinar emphysema and or COPD in adult life in many people with the condition. It is treated by avoidance of damaging inhalants, by intravenous infusions of A1AT protein by transplantation of teh liver or lungs.

Signs and symptoms


Intravenous infusions of alpha 1 antitrypsin derived from donated human plasma. This augmentation therapy will arrest the diasease and aso arrest the course of disease.

Associated diseases

  • Cirrhosis.
  • COPD.
  • Asthma.
  • Wegener's granulomatosis.
  • Gall stones.
  • Bronchiectasis
  • Prolapse.
  • Auto immune hepatitis.
  • Emphysema.
  • Primary sclerosisng cholangitis.
  • Cancer: Hepatocellular, bladder, gall bladder, lymphoma, lung cancer.