Wilson’s Disease – Symptoms, Diagnosis, and Treatment

Wilson's Disease – Symptoms, Diagnosis, and Treatment

Wilson’s disease is a rare hereditary disorder that involves an accumulation of copper in the body. Your liver, brain, eyes, and other organs are all impacted by the illness. Without treatment, having too much copper in your body can harm your organs to the point of fatality.

Wilson’s Disease

The body experiences toxic effects from copper due to Wilson’s disease, an uncommon hereditary illness. Other names for it include progressive lenticular degeneration and hepatolenticular degeneration. The liver removes extra copper from the body and releases it through urine in a healthy body.

Wilson’s illness prevents the liver from effectively eliminating the excess copper. The excess copper then accumulates in the liver, eyes, and brain, among other organs. If Wilson’s disease runs in your family, discuss this with your physician. Because numerous individuals with this illness have regular, healthy lives.

Symptoms

Wilson’s illness is present from birth, but symptoms do not show up until the liver, brain, or other organs start to accumulate copper. The disease’s many sections will cause different signs and symptoms in different places of your body. They may consist of:

  • Weakness, appetite loss, or stomach ache
  • Jaundice
  • Eye discoloration that is golden-brown (Kayser-Fleischer rings)
  • Fluid build-up in the legs or abdomen
  • Also, difficulties swallowing, speaking, or moving physically
  • Involuntary motions or stiffness in the muscles

Causes of Wilson’s Disease

Wilson’s illness arises due to a mutation in the ATP7B gene. This gene is in charge of flushing out excess copper from your body. Normally, the liver excretes excess copper into bile, a fluid that is kept in the gallbladder to aid with digestion.

Through the digestive tract, bile removes waste materials and other poisons from the body, including copper. Wilson disease causes your liver to excrete less copper into your bile. Thus, this allows the excess copper to remain in your body.

Diagnosis

Wilson’s illness can be challenging to identify due to its wide variety of possible symptoms. The illness can readily be mistaken for anything from heavy metal toxicity and hepatitis C to medication-induced lupus and cerebral palsy, especially if the symptoms are unclear. If Wilson’s disease is thought to be present, a review of the physical symptoms and many diagnostic tests, such as the following, will be part of the inquiry.

  • Testing for liver enzymes
  • Tests on blood to look for low amounts of ceruloplasmin, the protein that carries copper through the blood, and high levels of copper
  • Tests for blood sugar to look for low blood sugar
  • Urine was collected for 24 hours to measure calcium and acidity levels
  • Also, utilizing a liver biopsy to gauge the extent of accumulation of copper
  • Genetic testing to verify whether the ATB7B mutation is present

Treatment

Your age, overall health, and symptoms will have an impact on the course of treatment. The degree of severity of the illness will also play a role. Wilson’s disease does not have a treatment. Reducing the quantity of copper in your body requires lifelong therapy. Possible course of treatment:

  • Taking medications known as copper-chelating medications can assist your body’s organs and tissues in eliminating excess copper
  • Lowering the quantity of copper you consume through diet
  • Taking supplements containing zinc. Your body can’t absorb copper from food if you don’t have enough zinc.
  • Taking more B6
  • Using medication to address symptoms like stiffness or tremors in the muscles
  • Also, receiving a liver transplant if you suffer from significant liver damage
  • Treating issues early on can help avoid more serious issues.

The Bottom Line

For those with Wilson disease, a hereditary disorder that affects the whole family, early diagnosis and treatment result in the best possible outcome. To cut out copper from your diet, you might need to adjust your way of living. Also, keep track of your doctor’s appointments to ensure that your therapy is effectively reducing the quantity of copper in your body. Furthermore, with the correct care, you can recover and prevent potentially fatal consequences.