Alpha 1 antitrypsin deficiency

Question 1

What is alpha 1 antitrypsin deficency?

Answer 1

Is abnormality in the gene for a protease inhibitor called alpha 1 antitripsin ( the liver makes this)

Elastase is enzyme secreted by neutrophils and digest connective tissue, Alpha 1 antitrypsin is produced to inhibit neutrophil elastase.

However an autosomal recessive defect ( known as serpina 1) chromosome 14 causes defect in alpha 1 - antitrypsin.

Question 2

Complications of alpha 1 antitrypsin deficency?

Answer 2

Liver cirrhosis ( after 50 years old)

Bronchiectasis and emphysema in lungs.

Question 3

Diagnosis of alpha 1 antitrypsin deficency?

Answer 3

Screen for low serum alpha 1 antitrypsin

Liver biopsy ( can show cirrosis)

Genetic testing ( for alpha 1 antitrypsin gene)

CT of thorax

Question 4

Managment of alpha 1 antitrypsin deficency?

Answer 4

Stop smoking
Symptomatic management
Organ transplant
Monitor for complications.

Question 5

Symptoms of alpha 1 antitrypsin deficency?

Answer 5

Shortness of breath

wheezing

mucus production

chronic cough

liver cirrhosis

Question 6

Treatment of alpha 1 antitrypsin deficency?

Answer 6

IV infusion of A1AT protein

Supplement + oxygen + bronchodilators

Treat cirrhosis ( lactulose)