Alpha 1 Antitrypsin Deficiency

Question 1

What is Alpha 1 Antitrypsin?

Answer 1

Protease inhibitor

Question 2

What does Alpha 1 Antitrypsin do?

Answer 2

Inhibits elastase

Question 3

What does elastase do?

Answer 3

Digests connective tissue

Question 4

What secretes elastase?

Answer 4

Neutrophils

Question 5

So what does Alpha 1 Antitrypsin deficiency cause?

Answer 5

Lack of elastase inhibition causing more CT to be destroyed

Question 6

What codes for Alpha 1 Antitrypsin?

Answer 6

Chromosome 14

Question 7

What is the inheritance pattern of Alpha 1 Antitrypsin deficiency?

Answer 7

Autosomal recessive

Question 8

Which two organs are mainly damaged by an A1AT deficiency and at what age?

Answer 8

• Liver cirrhosis after 50yo

- Pulmonary basal emphysema after 30yo

Question 9

How is Alpha 1 Antitrypsin deficiency diagnosed?

Answer 9

• Serum A1AT (low)
• Liver biopsy
• Genetic testing
• hrCT Thorax

Question 10

What does a liver biopsy show in Alpha 1 Antitrypsin deficiency?

Answer 10

acid-Schiff-positive staining globules

Question 11

What does a hrCT thorax show in Alpha 1 Antitrypsin deficiency?

Answer 11

Pulmonary emphysema

Question 12

How is Alpha 1 Antitrypsin deficiency managed?

Answer 12

• Stop smoking
• Symptom management
• Organ transplant
• Complication monitoring e.g. hepatocellular Ca

Question 13

How may complications be monitored?

Answer 13

Hepatocellular Ca:

• Alpha fetoprotein
• USS

Question 14

What does NICE recommend against?

Answer 14

A1AT replacement