Wilson’s Disease Definition, Reason, Symptoms, Treatment & Prevention
Definition
Wilson’s disease or hepatolenticular degeneration is a rare genetic disorder that causes copper poisoning in the body. Under normal body conditions, the liver will filter excess copper and excrete it in the urine.
In people with Wilson’s disease, the liver is unable to get rid of excess copper. This causes copper to accumulate in organs such as the brain, liver and eyes.
Early diagnosis of Wilson’s disease is very important to prevent the disease from getting worse. Delayed treatment can lead to liver failure, brain damage and death. One of the treatment measures that can be done is a liver transplant.
Symptoms
Symptoms of Wilson’s disease vary depending on the organs affected. Symptoms of the liver include:
- weak condition
- tired easily
- weight loss
- nauseous
- vomiting
- loss of appetite
- itching
- jaundice or yellow color of the skin
- swelling due to fluid accumulation in the legs (oedema) or abdomen (ascites)
- abdominal pain and stomach feels bloated
- the appearance of small red lines (capillaries) on the skin above the waist called spider angiomas
- muscle cramps
Symptoms on the brain include:
- memory, speech and vision impairments
- abnormal gait
- migraine
- drooling
- insomnia
- awkward hand movements
- personality change
- mood swings
- depression
- problem at school
- muscle spasms
- seizures
- muscle pain when moving
Symptoms in other organs include:
- Kayser-Fleischer (KF) ring in golden brown eyes and sunflower cataracts
- bluish nails
- kidney stones
- early osteoporosis
- arthritis
- irregular menstruation
- low blood pressure
Reason
The cause of Wilson’s disease is a mutation in the ATP7B gene which functions in copper transport. Disorders can occur when a person gets the gene from both parents who may also be sufferers or only carry the gene.
Diagnosis
In the early stages, it is quite difficult to determine the diagnosis of Wilson’s disease. Symptoms of this disease are similar to other heavy metal poisoning, hepatitis C infection, and cerebral palsy. Typical physical examinations, such as KF rings and sunflower cataracts, may indicate Wilson’s disease.
Investigations are also needed to confirm Wilson’s disease. These tests include the condition of liver enzymes, copper levels in the blood, blood sugar levels, levels of ceruloplasmin (a protein that carries copper) and genetic tests.
MRI and CT scans can show brain abnormalities, especially if the patient has symptoms of a neurological disorder. A liver biopsy may also be done to look for liver damage and high copper levels.
Treatment
Treatment of Wilson’s disease aims to control copper levels in the body. Treatment consists of three stages and lasts a lifetime. Stopping treatment can cause copper to accumulate again.
The first stage aims to get rid of excess copper in the body through chelate therapy. The drugs used to chelate include d-penicillamine and trientine or Syprine. This drug will release copper that has accumulated in the organs into the blood circulation. After that, the kidneys will filter the copper and excrete it through the urine.
The second stage is to keep the body’s copper levels normal. Zinc tablets will be given to keep the body from absorbing copper from food.
The third stage is the maintenance of long-term conditions, namely by regularly consuming zinc, carrying out chelate therapy, and routinely monitoring copper levels. Avoid foods rich in copper such as dried fruits, liver, mushrooms, nuts, chocolate, vitamins and shellfish.
If the patient does not respond to these treatment steps, there is a possibility that a liver transplant is needed.
Prevention
Wilson’s disease cannot be prevented because it is caused by a genetic mutation passed down from parents. However, the progress of this disease can be slowed with early diagnosis and treatment.