Best of Five 3.7

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BOF:3. 7

A 40-year-old male who is a heavy smoker and known to have emphysema and has had previous pneumothoraces is referred to the liver clinic for further investigation of abnormal liver function tests. On examination he has clinical evidence of cirrhosis of the liver. There is no history of neonatal jaundice.

In this patient:

a)      The lack of a history of neonatal jaundice excludes alpha₁ antitrypsin deficiency

b)     Hepatocellular carcinoma is a recognised complication of this condition

c)      Presentation in infancy is uncommon

d)      It is the MZ heterozygotes who develop cirrhosis as the others die early

e)      The neonatal hepatitis syndrome that occurs in this condition is invariably fatal

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