BOF 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
Answer:
b)
Alpha 1 antitrypsin is a protease inhibitor. The normal
phenotype is MM. The clinically important variant is designated Z and it is the
ZZ homozygotes who develop disease.
Liver disease usually presents in childhood with the
neonatal hepatitis syndrome (conjugated hyperbilirubinaemia with pale stools
dark urine and hepatomegaly). Those who survive (25% die in early childhood)
usually undergo a long clinical course. Some paints may present with cirrhosis
with no history of jaundice in infancy. In these patients primary hepatoma is a
recognised complication.
Last Updated: 19/02/06
