Wilson disease (hepatolenticular degeneration) is a rare, autosomal recessive disorder caused by abnormal copper accumulation in the body which particularly involves the brain, liver, and cornea.
It primarily affects the liver and basal ganglia of the brain, which can also affect other organ systems too.
Copper is an important mineral in the human body which plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from food, and excess is excreted through a substance produced in your liver (bile).
But in people suffering from Wilson’s disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level.
Most people with Wilson’s disease are diagnosed between the ages of 5 and 35 or 6 and 45, but it also can affect younger and older people,as well.
When diagnosed early,Wilson’s disease is treatable, and many people with the disorder live normal lives.
Other names
- Copper storage disease
- Hepatolenticular degeneration syndrome
- WD
- Wilson’s disease
Frequency
Wilson disease is a rare disorder which affects approximately 1 in 30,000 individuals and may present as weakness, abdominal pain, jaundice, personality change, seizures etc.
Cause
Wilson’s disease is caused by a mutation in the Wilson disease protein (ATP7B) gene.
This protein transports excess copper into bile, where it’s excreted in waste products. The condition is autosomal recessive; for a person to be affected, whomever must inherit a mutated copy of the gene from both parents.
Complications:
- Liver Cirrhosis
- Encephalopathy
- Splenomegaly
- Ascites
- Variceal bleeding
- Hepatorenal syndrome
- Liver failure
- Neuropsychiatric manifestations
- Death
Inheritance
This rare condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene,which typically do not show signs and symptoms of the condition.
Symptoms:
Liver related Symptoms:
- vomiting
- weakness
- ascites
- swelling of the legs
- yellowish skin
- itchiness.
Brain or Neurological Symptoms:
- tremors
- muscle stiffness
- trouble speaking
- personality changes
- anxiety
- auditory or visual hallucinations.
Special Symptom
A brown ring on the edge of the iris (Kayser–Fleischer ring) is common in Wilson’s disease, especially when neurological symptoms are present.
Diagnosis:
- Ceruloplasmin test
- Serum and urine copper test
- Slit-Lamp examination (eye examination)
- Liver biopsy
- Genetic testing
Treatment
Diet
In general, by a diet which is low in copper-containing foods is recommended with the avoidance of mushrooms, nuts, chocolate, dried fruit, liver, sesame seeds and sesame oil, and shellfish.
Medications
The mainstay therapy for Wilson disease is copper chelation therapy with penicillamine and trientine. Trientine is preferred because of its fewer side effects. Oral zinc also could be given as it competes for absorption with copper, a metallic ion transporter.
Physical and occupational therapies
Physiotherapy and occupational therapy are beneficial in the neurologic form of the disease.
Transplantation
Liver transplantation is an effective cure for Wilson’s disease which is used only in particular scenarios because of the risks and complications associated with the procedure.
If you or someone you know may have Wilson’s disease or are showing symptoms of liver failure you should make an appointment with a doctor.
Early diagnosis and early treatment can help prevent or delay this rare condition.
Wilson’s disease is a lifelong condition.
So,the patient should continue his/her treatment for the rest of his life.
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Writer
Kulsuma Bahar Bethi
Content Writing Intern
YSSE