Wilson’s Disease: Causes, Symptoms, Diagnosis, Treatment

Wilson’s disease is a rare genetic disorder characterized by a buildup of copper in the body, especially in the brain, liver, and eyes.

The body needs a small amount of copper from food to help produce energy, blood vessels, and connective tissue, and to help maintain the immune system and the central nervous system.

According to records from The Office of Dietary Supplements, the average adult age 19 and over requires about 900 micrograms (mcg) of copper per day. However, if too much can be harmful to health.

Normally, the liver releases excess copper into the bile. Bile carries copper out of the body through the digestive tract. In Wilson’s disease, the liver doesn’t release enough copper into the bile, causing a buildup of copper in the body.

Large amounts of copper can damage tissue, which in turn replaces scar tissue. When the amount of scar tissue increases in the affected organ, it loses its ability to function properly and triggers symptoms of copper poisoning.

according to National Organization for Rare Disorders (NORD), Wilson’s disease is progressive. That is, if left untreated, it can lead to liver disease, central nervous system dysfunction, and even death.

1. Cause

Wilson's Disease: Causes, Symptoms, Diagnosis, TreatmentDNA illustration (pixabay.com/geralt)

Wilson’s disease is inherited as an autonomic recessive trait. A recessive genetic disorder occurs when a person inherits two copies of the abnormal gene for the same trait, one from each parent.

If a person inherits one normal gene and one gene from the disease, then that person will be a carrier of the disease (carrier), but are usually asymptomatic.

The risk of two parents carrier to pass on the altered gene and have an affected child is 25 percent with each pregnancy, while the risk of having an affected child carrier like parents, which is 50 percent in each pregnancy. Meanwhile, the chance of a child to receive normal genes from both parents is as much as 25 percent.

Men and women have the same risk. In addition, parents who are close relatives (consanguineous or inbreeding) have a higher risk than those who do not share the same abnormal gene, which increases the risk of having a child with a recessive genetic disorder.

According to researchers, Wilson’s disease is caused by a disorder or change (mutation) of the ATP7B gene, which plays an important role in the movement of excess copper from the liver to the bile, which is then excreted from the body through the intestines. More than 300 different mutations of the ATP7B gene have been identified.

2. Symptoms

Wilson's Disease: Causes, Symptoms, Diagnosis, Treatmentstomach ache illustration (pexels.com/cottonbro)

Reported National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), symptoms of Wilson’s disease usually first appear between the ages of 5 and 40. Even so, symptoms can appear at the age of 9 months and over 70 years, and symptoms may not appear at all before the disease is diagnosed and the sufferer gets treatment.

Adding from Healthlinethe signs and symptoms of Wilson’s disease vary depending on the organ affected:

  • Copper buildup in the liver: Symptoms that arise due to copper accumulation in the liver include weakness, nausea, vomiting, loss of appetite, weight loss, feeling tired, itching, jaundice, edema or swelling in the legs and abdomen, pain or bloating in the abdomen, muscle cramps, and spider angiomas or visible branch-like blood vessels in the skin. Many of the symptoms, such as jaundice and edema, are similar to those of other conditions such as kidney and liver failure.
  • Copper buildup in the brain: This can cause symptoms such as impaired memory, speech, or vision, as well as impaired walking, insomnia, drooling, migraines, depression, mood swings, and problems at school. In advanced stages, these symptoms may include muscle spasms, spasms, and muscle pain when moving.
  • Copper buildup in the eye: The doctor will also examine the Kayser-Fleischer (KF) ring and sunflower cataract. The KF ring is an abnormal golden brown discoloration of the eye caused by excess copper deposits. The KF ring appears in about 97 percent of people with Wilson’s disease. Meanwhile, sunflower cataract occurs in 1 in 5 patients. It is a distinctive multicolored center with radii that radiates outward.
  • Other symptoms: Copper buildup in other organs can cause symptoms such as kidney stones, premature osteoporosis, arthritis, bluish discoloration of the nails, irregular periods, and low blood pressure.

Also Read: Black Lines Appearing on Nails? It could be a sign of a serious illness

3. Complications it can cause

Wilson's Disease: Causes, Symptoms, Diagnosis, Treatmentillustration of a patient being hospitalized (flickr.com/NIH Clinical Center)

Wilson’s disease that is not treated immediately can lead to various complications. Reported Medical News Todaycomplications of Wilson’s disease include:

  • Acute liver failure.
  • Brain damage.
  • Cirrhosis.

In addition, this disease can also cause other health conditions such as:

  • Arthritis.
  • Cardiomyopathy.
  • Kidney stones.
  • Renal tubular acidosis.
  • Hemolytic anemia.
  • Osteoporosis.

4. Diagnosis

Wilson's Disease: Causes, Symptoms, Diagnosis, Treatmentillustration of going to the doctor (pexels.com/cottonbro)

A doctor can diagnose Wilson’s disease based on a medical history and diagnostic tests. If there is a history of this disease in the family, the diagnosis may be made more quickly

The physical exams your doctor will likely order to diagnose Wilson’s disease include:

  • eye test: To search for the Kayser-Fleischer ring or sunflower cataract.
  • Physical examination: Uto look for changes in the skin, enlarged liver, swelling in the abdomen and lower legs, and jaundice.
  • 24-hour urine test: To check how much copper is in the urine.
  • Liver biopsy: JIf blood and urine tests are inconclusive, the doctor will perform a liver biopsy to check for liver damage and to identify how much copper is in the tissues.
  • Imaging tests: MRI and CT scan scan if the patient has neurological symptoms.

The doctor will also do blood tests to check for:

  • Copper level.
  • Red blood cells to look for anemia.
  • Levels of cerulospasmin, which is a protein that carries copper in the blood.
  • A liver enzyme called alanine transaminase and aspartate transaminase.

5. Treatment

Wilson's Disease: Causes, Symptoms, Diagnosis, Treatmentillustration of drugs (IDN Times/Aditya Pratama)

After the diagnosis is made, the doctor will likely recommend a drug called an anti-inflammatory agent chelating, which binds to copper and then prompts organs to release copper into the bloodstream. After that, copper is filtered by the kidneys and released through the urine. Treatment will then focus on preventing the copper from building up again.

quote Mayo ClinicTreatment for Wilson’s disease lasts a lifetime, which includes:

  • Penicillamine: As a chelating agent, penicillamine can cause serious side effects, such as skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. This drug should be used with caution if the patient has a penicillin allergy. It also makes vitamin B6 work, so patients need to take supplements in small doses.
  • Trinity: Trientine works like penicillamine, but tends to cause fewer side effects. However, neurological symptoms may worsen when taking this drug.
  • Zinc acetate: This drug prevents the body from absorbing copper from the food you eat. It is usually used as maintenance therapy to prevent copper from building up again after treatment with penicillamine or trientine. Zinc acetate can be used as primary therapy if the patient cannot take penicillamine or trientin. However, zinc acetate can cause side effects such as stomach upset.

If the liver damage is severe, the patient may need a liver transplant. During the procedure, the surgeon will remove the diseased liver and replace it with a healthy liver from a donor. Liver comes from a deceased donor. However, in some cases liver can be obtained from a living donor.

That’s the explanation for Wilson’s disease, a buildup of copper in the body. If you have symptoms of this disease or there is a history of this disease in your family, immediately consult a doctor. Early diagnosis and treatment can prevent complications and increase life expectancy.

Also Read: 10 Most Deadly Diseases in the World, Killing Millions of Souls

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