What is Wilson’s disease? What are the symptoms of Wilson’s disease?

Wilson’s disease is a rare hereditary disease that occurs as a result of copper accumulation in the liver, brain, and other vital organs. Although Wilson’s disease is usually seen in people between the ages of 5 and 35, it can also be detected at younger ages and older ages.

Copper; takes part in the production of nerves, bones, collagen, and skin pigment. Under normal conditions, copper is absorbed from the food we eat and its excess is excreted from the liver through bile. However, copper cannot be properly excreted in people with Wilson’s disease and instead accumulates in the body at a life-threatening level. When diagnosed early, Wilson’s disease is treatable, and many people with the disease can lead a normal life.

What causes Wilson’s disease?

Wilson’s disease is caused by mutations in the ATP7B gene. The ATP7B gene is responsible for making a protein called ATPase2. ATPase2 protein is involved in the transport of copper from the liver to other parts of the body. Copper is essential for many cellular functions but is toxic when present in excessive amounts. The copper-bearing ATPase 2 protein is particularly important for removing excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from working properly. Consequently, excessive amounts of copper accumulate in the body.

Wilson’s disease is an autosomal recessive inherited disease. Genetic diseases are determined by two genes, one from the father and one from the mother. If both mother and father carry the diseased gene, one of their future children will have Wilson disease. Wilson’s disease is a rare disease that affects men and women equally. The disease is found in all races and ethnic groups. Although estimates vary, Wilson’s disease is believed to occur in approximately one in 30,000 to 40,000 people worldwide.

What is Wilson's disease? What are the symptoms of Wilson's disease?

What are the symptoms of Wilson’s disease?

Signs and symptoms of Wilson’s disease vary greatly depending on which organ is affected. They can be confused with other diseases or conditions.

Symptoms related to the liver:

  • weakness
  • feeling tired
  • weight loss
  • nausea
  • vomiting
  • loss of appetite
  • itching
  • jaundice or yellowing of the skin
  • edema or swelling of the legs and abdomen
  • abdominal pain or bloating
  • spider web-like blood vessels on the skin
  • muscle cramps

Neurological symptoms: The following symptoms occur when copper accumulates in the brain.

  • memory, speech, or vision impairment
  • abnormal gait
  • migraine
  • saliva
  • insomnia
  • awkwardness when using hands
  • personality changes
  • mood changes
  • depression
  • problems at school
  • In advanced stages, muscle spasms, seizures, and muscle pain may develop during movement.

Eye symptoms:

  • Kayser-Fleischer rings
  • Cataract

Symptoms caused by copper accumulation in other organs:

  • bluish discoloration of the nails
  • kidney stone
  • premature osteoporosis or lack of bone density
  • arthritis
  • Menstrual irregularities
  • low blood pressure

How is Wilson’s disease diagnosed?

Wilson’s disease can be difficult for doctors to initially diagnose. Symptoms are similar to other health problems such as heavy metal poisoning, hepatitis C, and cerebral palsy. The physician will request the following tests to make the differential diagnosis:

  • liver enzymes
  • serum copper level
  • Serum ceruloplasmin level: Serum ceruloplasmin levels are less than 20 mg / dL (reference range, 20-40 mg / dL) in approximately 90% of all patients with Wilson’s disease.
  • blood sugar
  • genetic testing
  • brain MRI or tomography if neurological findings are present
  • Liver biopsy to show copper accumulation in the liver
  • a detailed eye examination
  • Copper excretion in urine: Most patients with symptomatic Wilson’s disease have a urinary copper excretion rate of more than 100 mcg/day (reference range, <40 mcg/day), but may be increased in other cholestatic liver diseases.

How is Wilson’s disease treated?

The main principle of treatment is to remove excess copper from the body. For this, drugs are used to bind copper and ensure its excretion. In the second stage, copper levels should be maintained in the treatment. Zinc and other drugs are used at this stage. In the third stage, the serum copper level of the patient is regularly monitored.

Wilson’s patients are not recommended to consume the following high-copper foods:

  • dried fruit
  • liver
  • mushrooms
  • Hazelnut
  • shellfish
  • chocolate
  • multivitamins

Also, if there are copper water pipes in the house, they are replaced.

Liver transplantation may be considered in patients with liver failure that does not respond to medications.

What is the course of Wilson’s disease?

Early diagnosis of Wilson’s disease can prevent liver failure and neurological damage. People diagnosed with Wilson’s disease have to manage their illnesses throughout their lives.

What are the complications of Wilson’s disease?

Cirrhosis: Scar tissue develops while the liver tries to repair the damage caused by the copper load. This situation leads to cirrhosis.
Liver failure: It may develop acute or chronic. Liver transplantation may be considered in treatment.

Persistent neurological problems: Tremors, involuntary muscle movements, clumsy gait, and speech difficulties usually improve with treatment of Wilson’s disease. However, some people experience persistent neurological difficulties despite treatment.

Kidney problems: Wilson’s disease can damage the kidneys and cause problems such as kidney stones and an abnormal number of amino acids in the urine.

Psychological problems: These can be personality changes, depression, irritability, bipolar disorder, or psychosis.
Blood problems: jaundice and anemia may occur.

What are the diseases that can be confused with Wilson’s disease?

The symptoms of the following disorders may be similar to Wilson’s disease.

If the patient presents with mild liver disease, the most common misdiagnosis is viral hepatitis.
If the patient consumes alcohol, it can be confused with alcoholic cirrhosis.

Hand tremors can be confused with essential tremors. In this case, Parkinson’s disease may also be considered.

Sydenham chorea: It is a disease that occurs as a result of a rheumatic disease and is characterized by abnormal movements in the body.

Heavy metal poisoning is often caused by industrial exposure to various toxins such as copper, aluminum, arsenic, or mercury. Depending on the type and duration of exposure, damage to the lungs, nervous system, skin, or digestive system may occur. Symptoms of poisoning depend on the type of metal exposed to excess. These include headache, nausea, dizziness, sore joints and muscles, delirium, seizures, and a wide variety of other symptoms.

Neuroacanthocytosis is a very rare genetic disease of the neuromuscular and blood systems. Abnormal blood cells (acanthocytosis) are produced and there is muscle wasting. The most important symptom of this disorder is uncontrolled rapid muscle movements (amyotrophic chorea). It can be confused with the neurological symptoms of Wilson’s disease.

Huntington’s disease (Huntington’s chorea) is an inherited and progressive degenerative neurological disorder. There are initial personality changes and involuntary rapid jerky muscle movements. Over time, speech and memory deteriorate and involuntary muscle movements become more frequent and pronounced. As Huntington’s disease progresses, cognitive abilities and dementia occur. The symptoms of this disorder usually begin in adulthood, usually after the age of forty.

Tourette syndrome is a neurological movement disorder characterized by recurrent motor and vocal tics. Usually, the first symptoms that occur in childhood are rapid blinking or grimacing. Symptoms can also include involuntary movements of the arms and legs, shoulders, face, and muscles.

Cerebral palsy is a neuromuscular disease that occurs as a result of premature birth or damage to the brain during delivery. The biggest symptom of this disorder is a lack of muscle control and coordination. Cerebral palsy is not a progressive disorder.

In order to make the differential diagnosis of the diseases listed above from Wilson’s disease, the level of copper in the urine and ceruloplasmin in the blood should be checked.

If you or someone you know has signs of liver failure or a neurological disorder, apply to a comprehensive hospital to be examined for Wilson’s disease. We wish you healthy days.

The page content is for informational purposes only. Items containing information about therapeutic health services are not included in the content of the page. Consult your physician for diagnosis and treatment.

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