alpha 1 antitripsin deficiency

Question 1

what is alpha 1 antitripsin deficiency?

Answer 1

Alpha-1-antitrypsin deficiency is a condition caused by an abnormality in the gene for a protease inhibitor called alpha-1-antitrypsin.

found on chromosome 14 and inherited in a recessive fashion

Question 2

what are the 2 main organs affected?

Answer 2

Liver cirrhosis after 50 years old

Bronchiectasis and emphysema in the lungs after 30 years old

Question 3

what is the pathophysiology for liver disease in alpha1 antitripsin deficiency?

Answer 3

Normally, alpha-1-antitrypsin is created in the liver. In alpha-1-antitrypsin deficiency, an abnormal “mutant” version of this protein is produced, rather than the normal alpha-1-antitrypsin protein.

This mutant protein gets trapped in the liver, builds up, and causes liver damage. This liver damage progresses to cirrhosis over time. It can lead to hepatocellular carcinoma.

Question 4

what is the pathophysiology for lung disease in alpha1 antitripsin deficiency?

Answer 4

The lack of a normal, functioning alpha-1-antitrypsin protein leads to an excess of protease enzymes that attack the connective tissue in the lungs. This leads to bronchiectasis and emphysema over time.

Question 5

what is the screening test of choice?

Answer 5

Low serum-alpha 1-antitrypsin

Question 6

what will a liver biopsy show?

Answer 6

cirrhosis

and acid-Schiff-positive staining globules (this stain highlights the mutant alpha-1-antitrypsin proteins) in hepatocytes

Question 7

what imaging would you do and what would it show?

Answer 7

High resolution CT thorax diagnoses bronchiectasis and emphysema

Question 8

what is the management?

Answer 8

• Stop smoking (smoking dramatically accelerates emphysema)
• Symptomatic management
• Organ transplant for end-stage liver or lung disease
• Monitoring for complications (e.g. hepatocellular carcinoma)