What is Wilson’s disease

Wilson’s disease is a rare inherited disorder characterized by a toxic accumulation of copper in liver and brain (hepatolenticular degeneration).

Statistics on Wilson’s disease

The incidence of the disease is 1/30,000. One in 90 people carry the defective gene (heterozygous carriers), but both genes need to have the mutation (homozygous) in order for the person to be affected.

Risk Factors for Wilson’s disease

Wilson’s disease is inherited in an “autosomal recessive” manner. This means that for person to be affected he must inherit two faulty genes – one from each parent.

Progression of Wilson’s disease

Most patients become symptomatic during late childhood, adolescence or young adulthood. Symptoms do not appear before 6 years of age and are only rarely delayed until the fifth decade.

Untreated, the disease is uniformly fatal, hence the importance of early diagnosis and treatment. With appropriate treatment symptomatic patients generally improve and asymptomatic patients continue to lead a normal life.

How is Wilson’s disease Diagnosed?

 

  • Full blood count – low blood counts of red blood cells, white blood cells, and platelets are possible due to elimination by the spleen (as a result of liver cirrhosis)
  • Uric acid – low
  • Liver function tests and coagulation profile- abnormal.

    Prognosis of Wilson’s disease

    The liver disease is reversible with treatment, although the damage to the brain is not. With appropriate treatment, however, any further damage should be significantly prevented.

    Once the patient develops cirrhosis of the liver reversal of the liver damage can not be achieved. Cirrhosis of the liver from Wilson’s Disease has the same prognosis as other causes of cirrhosis -there is a high risk of death from haemorrhage, liver failure, or infection.

    How is Wilson’s disease Treated?

     

  • Copper Chelating agents – lifelong treatment with penicillamine leads to clinical and biochemical improvement. Can have serious side effects, however. Full blood count and urinary copper for monitoring.
  • Alternative – trientine dihydrochloride.
  • Hepatic transplantation – for patients with advanced liver disease.
  • Screening of first degree relatives is essential as asymptomatic homozygotes should be treated.

    Wilson’s disease References

    [1] Braunwald, Fauci, Kasper, Hauser, Longo, Jameson. Harrison’s Principles of Internal Medicine. 15th Edition. McGraw-Hill. 2001
    [2] Cotran, Kumar, Collins 6th edition. Robbins Pathologic Basis of Disease. WB Saunders Company. 1999.
    [3] Haslet C, Chiliers ER, Boon NA, Colledge NR. Principles and Practice of Medicine. Churchill Livingstone 2002.
    [4] Hurst JW (Editor-in-chief). Medicine for the practicing physician. 4th edition Appleton and Lange 1996.
    [5] Kumar P, Clark M. CLINICAL MEDICINE. WB Saunders 2002
    [6] Longmore M, Wilkinson I, Torok E. OXFORD HANDBOOK OF CLINICAL MEDICINE. Oxford Universtiy Press. 2001
    [7] McLatchie G and LEaper DJ (editors). Oxford Handbook of Clinical Surgery 2nd Edition. Oxford University Press 2002.
    [8] MEDLINE Plus
    [9] Raftery AT Churchill’s pocketbook of Surgery. Churchill Livingsone 2001.
    [10] Tjandra, JJ, Clunie GJ, Thomas, RJS,; Textbook of Surgery, 2nd Ed, Blackwell Science, Asia. 2001.