Intended for healthcare professionals

Clinical Review ABC of diseases of liver, pancreas, and biliary system

Other causes of parenchymal liver disease

BMJ 2001; 322 doi: (Published 03 February 2001) Cite this as: BMJ 2001;322:290
  1. S D Ryder,
  2. I J Beckingham

    Autoimmune hepatitis

    Autoimmune hepatitis is a relatively uncommon disease that mainly affects young women. The usual presentation is with fatigue, pain in the right upper quadrant of the abdomen, and polymyalgia or arthralgia associated with abnormal results of liver function tests. Other autoimmune diseases are present in 17% of patients with classic autoimmune hepatitis, predominantly thyroid disease, rheumatoid arthritis, and ulcerative colitis.

    About 40% of patients with autoimmune hepatitis present acutely with jaundice

    Use of genetic analysis to screen family members for haemochromatosis. The index case was a 45 year old man who presented with cirrhosis. His brothers were asymptomatic and had no clinical abnormalities. However, the brother who had inherited two abnormal genes (282YY) was found to have extensive iron loading on liver biopsy

    Autoimmune hepatitis is an important diagnosis as immunosuppressive drugs (prednisolone and azathioprine) produce lasting remission and an excellent prognosis. Although the condition can produce transient jaundice that seems to resolve totally, the process can continue at a subclinical level producing cirrhosis and irreversible liver failure. The diagnosis is based on detection of autoantibodies (antinuclear antibodies (60% positive), antismooth muscle antibodies (70%)) and high titres of immunoglobulins (present in almost all patients, usually IgG).

    Metabolic causes of liver disease

    Metabolic liver disease rarely presents as jaundice, and when it does the patient probably has end stage chronic liver disease.


    Haemochromatosis is the commonest inherited liver disease in the United Kingdom. It affects about 1 in 200 of the population and is 10 times more common than cystic fibrosis. Haemochromatosis produces iron overload, and patients usually present with cirrhosis or diabetes due to excessive iron deposits in the liver or pancreas. The genetic defect responsible is a single base change at a locus of the HFE gene on chromosome 6, with this defect responsible for over 90% of cases in the United Kingdom. Genetic …

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