A1AT

Question 1

What is alpha 1 anti trypsin deficiency and what does it cause

Answer 1

It in an inherited condition where normal levels of A1AT are not produced due to amino acid substitutions
Affects the lungs and the liver causing emphysema and cirrhosis respectively

Question 2

What is A1AT

Answer 2

It is a glycoprotein and 1 of a family of serine protease inhibitors made in the liver that control inflammatory cascades

Question 3

What type of deficiency is A1AT deficiency known as

Answer 3

Serpinopathy
Ser from serine
P from protease
In from inhibitors

Question 4

What does A1AT protect in the lungs

Answer 4

Protects from damage from neutrophil elastase

Lack of can be inherited and can also be chase by cigarette smoke

Question 5

What are the genetic variants of the gene that encodes for A1AT

Answer 5

Medium M
Slow S
Very slow Z
Normal is M

Question 6

What is an abnormal genotype and what risk does this correlate to

Answer 6

PiZZ high risk
PiSZ low risk
PiMZ low risk

Question 7

Tests

Answer 7

Serum A1AT this would be low but this may also be masked by inflammation making it falsely high
Genotyping
Phenotyping
Lung function = obstructive
Liver biopsy = Periodic acid Schiff (PAS) +ve, diastase - resistant globules
Prenatal diagnosis = DNA analysis of chorionic villus sampling at 11-13 weeks

Question 8

Which genotype is symptomatic

Answer 8

PiZZ
Dyspnoea
Cholestatic jaundice

Question 9

Management

Answer 9

Conservative - smoking cessation, preventative vaccines for lung infection, testing acute lung infections
Medical- IV A1AT , inhaled in lung
Surgical - lung transplant
Needed in decompensated cirrhosis and improved survival to non genetic COPD