a1-antitrypsin deficiency Flashcards
1
Q
What is the aetiology of A1?
A
Autosomal recessive disorder (normal genotype = piMM, abnormal = piZZ)
2
Q
What is the pathology of A1?
A
Loss of serum protease inhibitor that is synthesised in the liver. Controls inflammatory cascades
3
Q
What are the symptoms of A1?
A
COPD symptoms
- Dyspnoea
Cirrhosis
Cholestatic jaundice
4
Q
What tests should be done?
A
- Serum a1 levels
- Liver biopsy
- DNA analysis
- CT lung for COPD staging
5
Q
What will be shown by serum a1 levels?
A
They’ll be lowered
6
Q
Surgical treatment?
A
May require a liver transplant
7
Q
Pharma management of A1?
A
- Supportive therapy
- Emphysema treatment
- Augmentation therapy with a1 antitrypsin
