Alpha-1 Antitrypsin Deficiency

Question 1

What is alpha-1 anti-trypsin deficiency due to?

Answer 1

Abnormality in the gene for protease inhibitor- A1AT

Question 2

What is the protease inhibitor?

Answer 2

A1AT

Question 3

Where is A1AT produced?

Answer 3

In the liver

Question 4

What does A1AT provide protection from?

Answer 4

Elastase

Question 5

Where is A1AT coded for?

Answer 5

Chromosome 14

Question 6

What type of gene is there a defect on?

Answer 6

An autosomal recessive gene

Question 7

what 2 organs are affected by A1AT deficiency?

Answer 7

Liver

Lungs

Question 8

How are the lungs affected by A1AT deficiency?

Answer 8

Bronchiectasis
Emphysema
Occurs after 30 years old

Question 9

How is the liver affected by A1AT?

Answer 9

Cirrhosis after 50 years old

Hepatocellular carcinoma

Question 10

How is A1AT deficiency diagnosed?

Answer 10

A1AT concentrations
spirometry: obstructive picture

Question 11

Why would you do a high resolution CT of thorax?

Answer 11

To diagnose Bronchiectasis and Emphysema

Question 12

What is the management of A1AT?

Answer 12

Stop smoking- Emphysema

Organ transplant for Lung or Liver