Alpha-1-Antitrypsin Deficiency

Question 1

What is alpha-1-antitrypsin deficiency?

Answer 1

An autosomal recessive inherited condition causing a reduced amount of alpha-1-antitrypsin.

Question 2

What is alpha-1-antitrypsin?

Answer 2

It is a protein produced in the liver that protects the body from being damaged by infection fighting agents.

Question 3

What is the name of the enzyme which causes damage to the lungs and liver?

Answer 3

Elastase - produced by neutrophils. It breaks down connective tissue and it is replaced by scar tissue.

Question 4

What are the complications of A1AD?

Answer 4

Liver -
Liver cirrhosis.
Hepatocellular carcinoma.

Lungs -
Emphysema

Question 5

Which chromosome is affected in this disorder?

Answer 5

Chromosome 14.

Question 6

When does the person get liver cirrhosis?

Answer 6

After 50yrs

Question 7

When does the person get pulmonary basal emphysema?

Answer 7

After 30yrs.

Question 8

What are the signs and symptoms of A1AD?

Answer 8

Neonatal jaundice
COPD at 30-40yrs
Abnormal LFV (Liver function tests) without another explanation

Question 9

What is the diagnosis of A1AD?

Answer 9

Serum A1AT levels - will be lower.
Liver biopsy.
Positive acid Schiff staining globules (shows the breakdown products of elastase).
Genetic testing.
High resolution CT chest - to look for emphysema

Question 10

What are the management options for A1AD?

Answer 10

FEW OPTIONS

STOP SMOKING
treat complications

Rarely - IV A1AT from donors is used (NICE don’t recommend this at the moment).

Organ transplant - for liver and/or lungs.
Monitor continuously.