Incidence	- 1 in 10 North Europeans carry a deficiency gene
Age	- may present in childhood; liver disease may present in the over-50s
Sex
Geography
Aetiology	- autosomal dominant inheritance, located on chromosome 14 - gene product is a serpin - inhibits neutrophil elastase - Z variant of gene results in decreased synthesis and secretion of the product by the liver - results in accumulation fo gene product in liver, and low levels in plasma - the majority of patients with clinical disease are ZZ homozygotes
Presentation	- 10-15% of adult patients will develop cirrhosis, usually age > 50 years - 75% will have respiratory problems - worse in smokers - heterozygotes may develop liver disease (small risk)
Investigations	Serum a1-antitrypsin is low - 10% of normal in ZZ nomozygotes Liver biopsy
Macro
Micro	- PAS-positive, diastase-resistant globules in periportal hepatocytes - fibrosis and cirrhosis may be present
Staging
Serum markers
Management	- treat complications of liver disease - advise patients to stop smoking Liver transplantation - for patients with hepatic decompensation
Prognosis
Complications	- 5% of homozygotes die of their liver disease

Hepatobiliary medicine

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