Alpha 1 anti trypsin

Question 1

What is alpha 1 anti trypsin deficiency?

Answer 1

A an inherited genetic condition which causes a deficiency in protease inhibitor known as ‘Alpha 1 anti trypsin’

• leads to excessive protease activity and break down of elastins

Question 2

How is it inherited?

Answer 2

1. Autosomal recessive inheritance

2. Chromosome 14

Question 3

Name 3 genetic variations of Alpha 1 anti trypsin?

Answer 3

1. Homozygous PiMM ( normal each codes for 50%)
2. Homozygous PiSS ( no sx - each Z codes for 25%)
3. Homozygous PiZZ ( symptomatic - only 10% of normal alpha 1 anti trypsin level)

Question 4

Two defining clinical characteristics?

Answer 4

1. Pan acinar empheysema

2. Liver cirrhosis / carcinoma

Question 5

Name two investiagtions for Alpha 1 anti trypsin def?

Answer 5

1. A1AT concentrations

2. Spirometry - obstructive pattern

Question 6

How does Alpha1 anti trypsin def present?

Answer 6

Young and non smokers present with emphysema/COPD

Question 7

Mx for A1ATD

Answer 7

1. No smoking
2. supportive : bronchodilators etc
3. IV alpha-1 antitrypsin protein concentrates