Wilson Disease

Wilson’s disease is a genetic disorder affecting people from 3 – 55 years of age. Wilson’s disease is identified by copper toxicity in diverse body tissues, liver, brain, corneas of the eyes and other vital organs. The accumulation of copper starts from birth but its manifestation begins after 3 years. According to World Health Organization, global prevalence of wilson’s disease is estimated to be 1 in 10,000 to 1 in 30,000.

Copper, an essential nutrient for the body, works with iron in the formation of red blood cells. Copper helps in maintaining healthy bones, blood vessels, nerves, immune function and also contribute to iron absorption. Copper is sourced from food and excess is expelled from the body by bile produced by the liver. In Wilson’s disease, the copper is not excreted from the body and accumulates to a fatal level causing brain damage, liver failure and death. With early diagnosis, Wilson’s disease is treatable and many live a normal life.

Symptoms of Wilson’s disease:Wilson disease, a progressive disorder begins with liver dysfunction and damage starts by six years of age. Symptoms typically begin between the ages of 12 – 23 and may be mistaken for other diseases or conditions. Symptoms of Wilson’s disease may vary depending upon the affected organ of the body.

Symptoms related to the liver: Many of these symptoms, like jaundice and edema, are similar to the conditions like liver and kidney failure. The doctor conducts multiple tests to confirm diagnosis of Wilson’s disease. Some other symptoms include:

  • Weakness & Fatigue
  • Weight loss
  • Nausea & vomiting
  • Loss of appetite
  • Itching
  • Jaundice, or yellowing of the skin
  • Edema in legs and abdomen or pain/ bloating in the abdomen
  • Muscle cramps

Symptoms related to neurological conditions:

  • Memory, speech, or vision impairment
  • Abnormal walking
  • Migraines
  • Drooling
  • Insomnia
  • Personality changes
  • Changes in mood
  • Depression
  • Low performance in school/college

Other symptoms:

The buildup of copper in other organs can cause:

  • Kayser-Fleischer (K-F) rings and sunflower cataract in the eyes
  • Bluish discoloration in the nails
  • Kidney stones
  • Premature osteoporosis, or lack of bone density
  • Arthritis
  • Menstrual irregularities
  • Low blood pressure

Causes of Wilson’s disease

Wilson’s disease is inherited. This disease develops when one copy of the defective gene is inherited from each parent who is the carrier.

Risk factors:

  • Family history is the only known risk factor for Wilson’s disease. Having only one abnormal gene defines the carrier and is passed to the children.
  • Marriage among close relatives, consanguineous increases the risk than unrelated parents.

Complications of Wilson’s disease

Wilson’s disease may lead to several liver related problems, such as:

Other complications include

  • Neurological conditions
  • Kidney problems
  • Psychological issues
  • Blood problems

Diagnosis & Tests

Initially, due to absence of symptoms it may be difficult to diagnose Wilson’s disease. A doctor will check on the symptoms and family’s medical history. Various other tests are done to look for damage caused by excess copper in the body, such as:

  • Physical Examination
  • Lab Tests
  • MRI/CT Scan
  • Liver Biopsy

Treatment for wilson’s disease is based on the symptoms, age, overall health and severity of the condition. Treatment for lifetime is required as there is no cure for this condition.

Treatment includes

  • Medication to remove excess copper from the body and maintain normal levels.
  • Maintenance therapy such as having low copper diet & monitoring copper levels
  • Aggressive Physiotherapy for neurological diseases
  • Liver transplantation. When the body doesn’t respond to the medications and if complications like acute liver failure or chronic liver damage occur, liver transplantation can cure Wilson’s disease.

Preparing for appointment:

Consult a hepatologist, who specializes in liver diseases for the treatment of Wilson’s disease.

Make a note of:

  • Symptoms
  • Medical Conditions
  • Family history of Wilson’s disease
  • Medications, including supplements
  • Queries to ask the doctor

WHY Rela Hospital

Dr. Rela Hospital’s – Liver Transplant program is spearheaded by Prof Mohamed Rela, World Renowned Transplant Surgeon, who has the credit of performing a successful Liver Transplant on a 5 day old child.

Rela Hospital one of the exceptional liver hospitals in Chennai, has the best paediatric liver transplantation surgeons in India for treatment of children with advanced liver/ metabolic diseases who have the need of instant liver transplantation.

With more than sixty Paediatric transplants per year to its credit, Rela Hospital is the largest Paediatric Liver Transplant Centre in South – Asia.


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