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Alpha-1-Antitrypsin Deficiency (Clinical Presentation (In adults it…
Alpha-1-Antitrypsin Deficiency
Epidemiology
More common in caucasians
An inherited AUTOSOMAL RECESSIVE conformational disease that can be fatal
Pathophysiology
In the lung, alpha-1-antitrypsin protects against tissue damage from neutrophil elastase - a process that is also induced by smoking
Deficiency results in
Liver cirrhosis
Hepatocellular carcinoma
Emphysema
Alpha-1-antitrypsin is produced in the liver and its main role is to inhibit the proteolytic enzyme - neutrophil elastase
Clinical Presentation
In adults it tends to present as respiratory problems (dyspnoea) i.e. emphysema
Around 10-15% of adults will develop cirrhosis, usually over the age of 50
In children it tends to present as liver disease i.e. liver cirrhosis, hepatitis and cholestatic jaundice
75% will have respiratory problems
Majority of symptomatic patients are homozygotes with a PiZZ phenotype
Heterozygotes may develop liver disease but risk is small
Diagnosis
Serum alpha-1-antitrypsin levels are LOW
Treatment
Stop smoking
Those with hepatic decompensation should be assessed for liver transplant
Treat complications of liver disease
Manage emphysema
No treatment