FN: alpha 1 antitrypsin deficiency

Question 1

Epi

Answer 1

􏰀 Prevalence: 1/4000, 10% are carriers 􏰀 Genetics: AR, Chr 14
􏰁 Homozygotes have PiZZ phenootype

Question 2

Pathophysiology

Answer 2

􏰀 α1AT is a serpin involved in control of the inflammatory cascade by inhibiting neutrophil elastase.
􏰀 α1AT is synthesised in the liver and comprises 90% of se α1-globulin on electrophoresis.

Question 3

Presentation

Answer 3

􏰀 Variable presentation
􏰁 Neonatal and childhood hepatitis
􏰁 15% of adults develop cirrhosis by 50yrs
􏰁 75% of adults have emphysema (esp. smokers)

Question 4

Ix

Answer 4

􏰀 Blood: ↓ se α1AT levels
􏰀 Liver biopsy: PAS+ve, diastase-resistant globules 􏰀 CXR: emphysematous changes
􏰀 Spirometry: obstructive defect
􏰀 Prenatal Dx: possible by CVS

Question 5

Mx

Answer 5

􏰀 Mostly supportive for pulmonary and hepatic complications.
􏰀 Quit smoking
􏰀 Can consider α1AT therapy from pooled donors.