Alpha 1 Antitrypsin Deficiency

Question 1

What is it?

Answer 1

Inherited deficiency of protease inhibitor called alpha 1 antitrypsin
Leads to an XS of protease enzymes that attack liver and lung tissue and cause liver cirrhosis and lung disease

Question 2

Pathophysiology?

Answer 2

Autosomal recessive defect in the gene for A1AT on chromosome 14
Resulting in lack of protection against neutrophil elastase (which digest connective tissues) because A1AT isn’t present in tissues inhibit the neutrophil elastase.

Question 3

2 main organs are affected leading to?

Answer 3

Lungs: Pulmonary basal emphysema
Liver: Liver cirrhosis

Question 4

Diagnosis?

Answer 4

Low serum A1AT (1st)
Liver biopsy shows cirrhosis
Genetic testing
High resolution CT thorax

Question 5

Management?

Answer 5

Stop smoking
Symptomatic
Organ transplant
Monitor for complications