Wilson’s Disease Explained: Causes, Symptoms & Treatment Options

All About Wilson’s Disease: Causes, Symptoms, Diagnosis, and Treatment Options Worldwide

Wilson’s disease is a rare genetic disorder in which the body is unable to remove excess copper. Accumulation of copper can damage the liver, brain, and eyes. If left untreated, serious complications arise. Early diagnosis is key, and treatment must be continued throughout an individual’s life. Wilson’s disease occurs across the world, in countries such as Canada, the United Kingdom, Germany, France, Italy, Spain, Japan, South Korea, Switzerland, China, and countries in the Middle East and Latin America. What Causes Wilson’s Disease? Wilson’s disease occurs due to mutations in the ATP7B gene, which helps the body manage the transportation of copper. Those with ATP7B mutations will have their body accumulate copper instead of excreting it through bile with their liver. Wilson’s disease falls under the category of “autosomal recessive” diseases. That means both parents have to have the gene mutation for their child to have the disease. Common Symptoms of Wilson’s Disease: A person may show symptoms of the disease and may appear in childhood, adolescence, or adulthood. Symptoms are usually separated into groups of symptoms relating to the liver and symptoms relating to the nervous system. Liver Symptoms:

• Being tired
• Yellowing of the skin and eyes
• Inflammation of the abdomen
• High levels of liver enzymes
• If very advanced: Scar tissue buildup and liver failure

Neurological and Psychiatric Symptoms:

• Tremors and rigidity of muscles
• Issues with speech or movement
• Sadness, anxiety, or other mood changes
• Issues with memory and concentration

Eye Findings:

• Kayser–Fleischer rings, visible copper accumulation around the cornea, are a key diagnostic sign.

How Is Wilson’s Disease Diagnosed?

Diagnostic techniques may include:

• • Blood Testing (ceruloplasmin levels, liver function tests)
  • Collecting urine over 24 hours to measure excreted copper levels
  • Genetic Testing
  • Biopsy of the liver (in some specific instances)
  • Finding Kayser-Fleischer rings in the eyes

Timely diagnosis improves positive outcome prognosis in the long run. Treatment Options for Wilson’s Disease: Wilson’s disease treatment is lifelong to manage copper buildup in the body. The goal is to remove excess copper and to stop the body from accumulating more in the future. Copper Chelation Therapy: These treatments help to bind any copper in the body and help its removal.

• Penicillamine – historically used, but may be responsible for causing side effects in some cases
• Trientine (Triokris) – This medicine is the most used alternative, particularly in those who do not tolerate penicillamine.

Trientine (Triokris) is one of the most prescribed medications in the world for long-term management of Wilson’s disease. This medication has:

• Excellent tolerability
• Long history of clinical use
• Suitability for maintenance therapy under medical supervision

Zinc Therapy: Zinc is used to help prevent copper from being absorbed from food and helps in maintenance therapy too. Liver Transplant: This might be necessary in advanced cases of severe liver failure. Access to Wilson’s Disease Medicines Worldwide Patients living in Canada, the UK, Europe, the Middle East, Japan, South Korea, and Latin America face multiple challenges in accessing Wilson’s Disease medicines and resources. This is due to the unavailability and high costs of Trientine. Because of our compliant international supply routes, we at THE INDIAN PHARMA (TIP) can supply this medicine to patients, hospitals, NGOs, and international importers. This is all done with respect to the regulations and prescriptions of the physician in the importing country. Living with Wilson’s Disease: Most patients diagnosed with Wilson’s disease early in the disease course are able to live full, fulfilling, and productive lives with ongoing treatment. Long-term Wilson’s disease treatment includes regular follow-ups, adherence to prescribed medications, and consistent monitoring. Frequently Asked Questions (FAQs):

What is Wilson’s Disease, and why is it considered a rare genetic disorder?

Wilson’s Disease is a rare genetic liver disorder. In this, copper builds up in the liver, brain, and eyes because of impaired copper excretion.

What are the common signs of Wilson’s Disease, including Kayser–Fleischer rings?

Some common signs and symptoms include liver complications, neurological symptoms, psychiatric changes, and Kayser–Fleischer rings around the eyes during examination.

What is the standard treatment for Wilson’s Disease worldwide?

Wilson’s Disease treatment focuses on lifelong copper chelation therapy using medicines like Trientine (Triokris), penicillamine, or zinc under medical supervision.

Is Trientine used for Wilson’s Disease treatment in Canada, the UK, and Europe?

Yes, Trientine is widely used for Wilson’s Disease treatment in Canada, the United Kingdom, Germany, France, Italy, Spain, and Switzerland, depending on local availability.

How can patients access Wilson’s disease medicines like Trientine in the Middle East?

Patients in Saudi Arabia, UAE, Bahrain, Oman, Qatar, Kuwait, Egypt, Jordan, Syria, Lebanon, and Israel may access Trientine through imports or named-patient pathways, based on local regulations.

Is Trientine available for Wilson’s Disease treatment in Asia, including Japan, South Korea, and China?

Yes, Wilson’s disease medicine can be accessed in South Korea, Japan, and China through suppliers like The Indian Pharma (TIP).

How is Wilson’s Disease treated and managed in Latin America and the Caribbean?

In countries such as Mexico, Colombia, Brazil, Chile, Peru, El Salvador, Haiti, Ecuador, Uruguay, Costa Rica, Venezuela, Cuba, Dominican Republic, Guatemala, and others, treatment may involve importingTrientine via regulated accessing channels.

When do doctors prefer Trientine over penicillamine for Wilson’s Disease?

Doctors may prefer Trientine when patients experience intolerance, side effects, or neurological worsening with penicillamine during copper chelation therapy.

Why is access to Wilson’s disease medicine different across countries?

Access varies because Wilson’s Disease is rare, and Wilson’s disease medicine access depends on national approvals, import rules, and healthcare infrastructure in each country.

References: National Institutes of Health (NIH) – Wilson Disease Overview U.S. National Library of Medicine – Genetics Home Reference European Association for the Study of the Liver (EASL) – Wilson’s Disease Guidelines World Health Organization (WHO) – Rare Diseases and Access to Medicines National Organization for Rare Disorders (NORD) – Wilson Disease Medical Disclaimer: This content is intended for informational purposes only and does not replace professional medical advice. Diagnosis and treatment of Wilson’s disease must be determined by a qualified healthcare professional. Medicines such as Trientine (Triokris) should only be used under physician supervision and in accordance with local regulatory requirements.