Wilson’s disease is a very rare genetic disorder inherited in an autosomal recessive pattern that can be passed on to the next generation from parents who carry one or both copies of the affected gene. It is estimated that 1 out of 40,000 people worldwide are affected by Wilson’s disease.
To develop Wilson’s disease, you need to inherit two copies of the defective gene, one from each parent. If you inherit only one copy of the defective gene, then you will be a carrier and pass on the gene to the next generation, but you will not develop the disease.
Usually, symptoms of Wilson’s disease develop between 12 and 23 years of age, and untreated people may have a life expectancy of 40 years. However, early diagnosis, followed by proper treatment, may increase the life span.
What is Wilson’s disease?
Wilson’s disease is caused by a defect in the ATP7B gene, which prevents the metabolization and elimination of copper from the body, potentially developing into a life-threatening condition.
Although your body needs a small amount of copper for certain bodily functions, an excess amount of this mineral is toxic and may lead to complications. The liver plays a major role in the metabolism of copper with excess copper transferred to the bile, which is later eliminated through stools.
- People with Wilson’s disease build-up copper deposits in the liver without eliminating it and develop complications such as liver failure and cirrhosis.
- As copper enters the circulatory system, it is distributed among other organs, and eventually, copper is deposited in the organs throughout the body.
- Although the accumulation of cooper deposits occurs from birth, symptoms related to the condition appear after several years of age.
What are the symptoms of Wilson’s disease?
Wilson’s disease affects various organs, resulting in various symptoms that may include:
- Copper deposits around the iris in the eye and forms a ring-like structure known as Kayser–Fleischer rings (a first noticeable symptom of Wilson’s disease)
- Low blood pressure
- Loss of appetite
- Weight loss
- Abdominal pain
- Easy bruising
- Reduced count of platelets and white blood cells
- Enlargement of the liver and spleen
- Jaundice (yellowing of the skin and eyes)
- Accumulation of fluid in the abdomen and legs
- Kidney stones
- Reduced bone density and osteoporosis
- Difficulty swallowing
- Slurred speech
- Slow and uncontrollable movements that are repetitive
- Muscle stiffness
- Loss of muscle tone
- Poor coordination
- Menstrual irregularities
- Mental problems such as psychosis or suicidal thoughts
How to diagnose Wilson’s disease
The diagnosis of Wilson’s disease is not done readily in the initial stages because the symptoms caused are correlated with many other medical conditions, especially with conditions that involve the liver and nerves.
Doctors diagnose Wilson’s disease by the following:
- Ocular examination to find Kayser–Fleischer rings around the iris
- Abdominal examination to check for the following:
- Fluid buildup
- Enlargement of the liver and spleen
- Testing for nervous disorders
- Genetic testing to detect defect gene
- Abnormal liver enzymes
- Copper levels in the blood
- Blood sugar levels
Doctors perform magnetic resonance imaging and computed tomography to detect any brain abnormalities. Although these findings do not help with the initial diagnosis of the disease, they will help confirm it and determine the current stage.
Doctors may perform a liver biopsy to determine the extent of copper deposition and possible liver damage.
Doctors conduct a procedure in which they extract a small piece of the liver tissue by using a needle. This procedure is performed under the influence of anesthesia. Doctors study the extracted liver tissue under a microscope to check for copper deposits.
What are the treatment options for Wilson’s disease?
Wilson’s disease is unpreventable because it is passed through genes from parents with no known cure. However, you may slow down the progression of the disease by early diagnosis and treatment of the symptoms.
Treatment options for Wilson’s disease include:
- Doctors may give you chelating agents such as penicillamine and trientine to remove excess copper from the body. However, these agents are to be given with caution, and monitoring is required because they may cause side effects such as fever, rash, and renal problems and may delay wound healing.
- People with Wilson’s disease may be given vitamin B6 supplements along with penicillamine, which may reduce the activity of vitamin B6 in the body.
- The chelating agents may worsen the symptoms in people with neurological symptoms.
- Zinc prevents the intestinal absorption of copper, so this is usually given as a maintenance treatment to prevent copper deposition in the body after treating people with chelating agents.
- Moreover, zinc is given to people with Wilson’s disease who did not develop any symptoms.
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