Wilson disease (also called hepatolenticular degeneration) is a rare, autosomal recessive disorder caused by abnormal copper assemblage in the body especially involving the liver, brain, and cornea. It affects 1 in 30,000 people and may manifest as jaundice, weakness, abdominal pain, seizures, personality change, etc. It mostly affects the liver and basal ganglia of the brain, but it can affect certain other organ systems too.
Staging of Wilson Disease (WD):
- Stage 1: Initial assemblage of copper in the liver
- Stage 2: Serious redistribution of copper within the liver, followed by release into the systemic circulation
- Stage 3: Chronic assemblage of copper into extrahepatic tissues including brain
- Stage 4: Use of chelation treatment to restore copper balance
Symptoms: Symptoms of Wilson disease (WD) specifically are related to the brain and liver. Liver-related symptoms include ascites, vomiting, yellowish skin, weakness, swelling of the legs, and itchiness. Brain or neurological symptoms include trouble speaking, tremors, muscle stiffness, anxiety, personality changes, and auditory or visual hallucinations.
Diagnosis of Wilson Disease (WD): Diagnosis is complex and mainly involves blood tests, urine tests, and a liver biopsy together with the clinical evaluation. Genetic testing may be considered to screen the family members of those affected.
Treatment/Management:
The mainstay treatment for Wilson’s disease (WD) is copper chelation therapy with penicillamine and trientine. Trientine is a first-choice treatment because of minimal side effects. It is necessary to educate the patient on the potential side effects of chronic chelation therapy which can make symptoms worse. D-penicillamine can be considered during pregnancy and does not pose any risk to the fetus.
In the case of liver cirrhosis and its associated complications, a Transjugular intrahepatic portosystemic shunt (TIPS) can be used for recurrent variceal bleeding. Liver transplantation is curative and seems to have been beneficial in enhancing neurological dysfunction in some patients not responding properly to medical therapy.
A diet low in copper-containing foods is required with avoidance of chocolate, mushrooms, nuts, dried fruit, liver, and shellfish.
Physiotherapy and occupational therapy can be used for the neurologic form of the disease. The copper chelating therapy takes up to 6 months to start working, and these therapies can assist in coping with dystonia, ataxia, and tremors as well as preventing contractures that can result from dystonia.
Prognosis of Wilson Disease (WD):
Several scoring systems have been put forward for prognostication. Some of these incorporate levels of AST, bilirubin, and prothrombin time, etc. on presentation. Those with a prognostic score of 7 or beyond should be referred for a liver transplant. Those with this score are generally dead within 8 weeks without treatment. After a liver transplant, the prognosis of the disease is good. A survival rate of 87% at 15 years has been noted.
Conclusion:
Wilson disease (WD) is best managed by an interprofessional team that includes a dietitian, geneticist, gastroenterologist, neurologist, nurse practitioner, pathologist, radiologist, mental health nurse, and an internist. The key therapy for this disorder is copper chelation therapy with penicillamine and trientine. Without proper treatment it is fatal. Liver transplantation is an option for some individuals with early disease. However, it is the neurological features of the condition that are tough to manage. The patient should be educated on the consumption of a low copper-containing diet.
References:
https://www.sciencedirect.com/science/article/pii/S2542568420300040
https://emedicine.medscape.com/article/183456-overview?form=fpf
