Consultant Pediatrician ? B.J.Wadia Hospital for Children
Editor - Pediatric Oncall
What is Wilson's disease?
Wilson's disease is a genetic problem in which copper accumulates in various organs of the body leading to dysfunction of various body organs. It is also called as hepatolenticular degeneration [Hepato = liver, lenticular = lenticular area of brain] as it predominantly affects the brain and the liver.
In which organs of the body does the copper accumulate?
Copper tends to accumulate in the eyes, liver, brain, joints predominantly.
Why does copper accumulate in Wilson's disease?
It has been found that patients with Wilson's disease tend to have mutations in the ATP7B gene. As a result more copper is absorbed from the food eaten by the intestines and this excess copper cannot be excreted out from the body. This excess copper then accumulates in various organs affecting the function of these organs.
What are the symptoms of Wilson's disease?
Clinical features of Wilson's disease are varied and can range from liver problems to neurological and psychiatric problems and even bone, kidney and blood problems.
Patients may present with jaundice, tremors, poor co-ordination, walking problems. Psychiatric problems in form of depression, neurotic behavior, intellectual deterioration and personality changes may be seen.
Jaundice is commonly seen in children and young adults between 4-25 years of age. Neurological involvement is commoner in older patients but can also occur in older children and adolescents. Few patients may have both liver and neurological problems together and they usually present with mood disturbance especially depression and poor impulse control, changes in school performance and deteriorating handwriting.
In the eyes, copper deposition in the cornea leads to formation of a copper ring called as KF ring (Kay ser ? Fleischer ring) which can be checked by the doctor. Occasionally, patients may develop cataracts, anemia (low hemoglobin), kidney disease and arthritis.
How is the diagnosis of Wilson's disease made?
Diagnosis of Wilson?s disease is suspected in individuals from 4-50 years of age suffering from liver and brain dysfunction. KF rings in the eyes are suggestive of Wilson?s disease and are seen in 50-85% of patients with liver disease and 90% of patients with brain involvement. Diagnosis can be established by checking copper content in liver, urine and blood. In liver, copper content is usually more than 250 micrograms per gram of liver. However it may be normal or slightly elevated as copper is unevenly distributed in the liver. Usually urine copper is high and is seen in all patients. Blood copper is high but is not very reliable as blood copper content tends to vary with age of the child.
Genetic testing for checking mutations is available only in reference labs and is used basically for checking disease in sibs of a patient and to make early diagnosis.
What are the chances that other sibs may be affected?
There is a 25% chance that other sibs may be having Wilson?s disease. Thus, all brothers and sisters of a patient should be checked for Wilson?s disease. Genetic testing can be done in babies in the womb provided the mutation in the affected patient is known.
What is the treatment of Wilson?s disease?
Treatment consists of drugs that help to excrete copper in urine as well as drugs that help to prevent copper absorption from the food. Drugs such as penicillamine (pronounced as penny-sill-a-mean) or trientine (pronounced as try-an-teen) increase copper excretion in urine and are usually used commonly. Zinc helps to prevent copper absorption from the food. Treatment is life long.
Restriction of food rich in copper is advisable (liver, brain, chocolates, mushrooms, shellfish, nuts are thus avoided).
In patients with severe liver disease, liver transplantation may be required.
What are the side effects of these medicines?
Penicillamine can cause decrease in blood counts, loss of protein in urine and skin reactions. Your doctor will monitor for these side effects and presence of any such side effect may require discontinuation. Patients on penicillamine require pyridoxine (Vitamin B6) supplements. Trientine is usually prescribed in patients who cannot tolerate penicillamine. Side effects include gastritis and anemia but are rare.
Last updated: 24th December 2009