Congenital Abnormalities and Metabolic Disorders

A large number of inherited conditions have been recognized as possible causes of hepatocellular carcinoma.

These include Alagille's syndrome, ataxia-telangiectasia, familial polyposis of the colon, hereditary haemorrhagic telangiectasia, familial cholestatic cirrhosis, neonatal hepatitis/biliary atresia, neurofibromatosis and Soto syndrome. All of these are rare and some cases may have been pure chance associations (Anthony, 1994).

Inborn errors of metabolism are not all rare and some carry a surprisingly high risk of hepatocellular carcinoma (European Association for the Study of the Liver, 1999). It is interesting that this tumour is the only malignancy that complicates these disorders regularly. Genetic haemo-chromatosis is an autosomal recessive iron storage disorder associated with two mutations in the HFE gene: C282Y and H63D. The frequency in the general population is 0.51.0% in Northern Europe but lower elsewhere. The accumulation of iron leads to cirrhosis which then may be complicated by hepatocellular carcinoma, especially in males. The relative risk is about 100 over that of normal individuals. a-1-Antitrypsin deficiency is associated with neonatal jaundice and cirrhosis in early childhood and with emphysema and cirrhosis in adult life. Inheritance is under the control of Pi (protease inhibitor) genes of which the Z variant is the most important. Male adults with cirrhosis are at an increased risk of developing hepatocellular carcinoma but the magnitude of this is debated. Tyrosinaemia carries an almost 100% risk of hepatocellular carcinoma by the age of 10 years if patients survive that long. It is now recommended that hepatectomy and liver transplantation be carried out by 2 years of age. Glycogen storage disease and porphyria syndromes are rare and the risk of malignancy is low.

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