Treatment Overview

Receiving a diagnosis of Wilson disease can feel confusing and overwhelming. It is a rare genetic disorder that prevents the body from filtering out extra copper, causing it to build up in vital organs like the liver, brain, and eyes. Patients may struggle with fatigue, tremors, difficulty speaking, or mood changes, which can be frightening before a cause is found. However, the diagnosis brings a clear path forward. With proper care, the condition is highly manageable, and many people go on to lead full, healthy lives.

Treatment is critical and must be lifelong. Without intervention, copper accumulation becomes toxic, leading to severe liver damage or permanent neurological disability. The primary goal of treatment is to lower the amount of copper in the body to safe levels and keep it there. Because the disease affects everyone differently, some present with liver failure while others have psychiatric symptoms, medication plans are carefully tailored to the individual’s specific needs and disease stage (National Institute of Diabetes and Digestive and Kidney Diseases, 2017).

Overview of treatment options for Wilson Disease

The management of Wilson disease is generally divided into two phases: the initial “de-coppering” phase and the lifelong maintenance phase. The first phase aims to rapidly remove the toxic excess of copper that has accumulated in tissues. Once copper levels are stabilized, the second phase focuses on preventing re-accumulation.

Medication is the cornerstone of therapy. While a low-copper diet (avoiding liver, shellfish, chocolate, and nuts) is often recommended, diet alone is insufficient to control the disease. Pharmacological treatment is mandatory. Liver transplantation is typically reserved only for cases of acute liver failure or when medication is ineffective.

Medications used for Wilson Disease

For the initial treatment of symptomatic patients, doctors typically prescribe chelating agents. The two main drugs in this class are penicillamine and trientine. These are powerful medications used to aggressively pull copper out of the body. Clinical experience suggests that while effective, penicillamine carries a higher risk of side effects, leading many specialists to prefer trientine for certain patients.

Once copper levels have normalized, or for patients who are diagnosed before symptoms appear (presymptomatic), zinc salts are the standard treatment. Zinc acetate and zinc gluconate are commonly used. Zinc is generally gentler on the body than chelators and is excellent for maintenance.

Expectations vary depending on the organs affected. Liver function often begins to improve within weeks to months. However, neurological symptoms like tremors or speech difficulties may take much longer, sometimes up to a year to improve, and in some cases, damage may be permanent (Mayo Clinic, 2022).

How these medications work

Chelating agents (penicillamine and trientine) work by acting like a chemical magnet. When taken, they bind tightly to the excess copper circulating in the blood and tissues. This binding creates a compound that the kidneys can filter out, allowing the copper to be excreted safely through urine.

Zinc works through a completely different mechanism involving the digestive tract. It blocks the absorption of copper from food in the intestines. By inducing the production of a protein called metallothionein in the gut cells, zinc traps copper inside these cells. The trapped copper is then harmlessly eliminated in the stool when the gut cells are naturally shed. This prevents new copper from entering the bloodstream (Wilson Disease Association, 2023).

Side effects and safety considerations

Penicillamine demands close monitoring due to significant side effects like kidney toxicity, bone marrow suppression, and skin issues. A Vitamin B6 supplement is necessary as it interferes with B6. 20-30% of patients may see worse neurological symptoms when starting chelation, requiring immediate medical assessment.

Trientine is generally better tolerated but can cause iron deficiency anemia. Zinc is safe but often causes manageable stomach upset or nausea by adjusting the dosing time relative to meals.

Lifelong, non-negotiable monitoring with regular blood and urine tests is required to keep copper levels safe. Pregnancy requires special management: medication continues but dosages are often adjusted. Patients must seek immediate care for fever, rash, or blood in the urine.

Since everyone’s experience with the condition and its treatments can vary, working closely with a qualified healthcare provider helps ensure safe and effective care.

References

  1. Mayo Clinic. https://www.mayoclinic.org
  2. National Institute of Diabetes and Digestive and Kidney Diseases. https://www.niddk.nih.gov
  3. Wilson Disease Association. https://wilsondisease.org
  4. American Association for the Study of Liver Diseases. https://www.aasld.org

Medications for Wilson Disease

These are drugs that have been approved by the US Food and Drug Administration (FDA), meaning they have been determined to be safe and effective for use in Wilson Disease.

Found 3 Approved Drugs for Wilson Disease

Penicillamine

Brand Names
Aagylur, Depen, Cuprimine

Penicillamine

Brand Names
Aagylur, Depen, Cuprimine
Form: Tablet, Capsule
Method of administration: Oral
FDA approval date: December 04, 1970
Classification: Antirheumatic Agent
CUPRIMINE is indicated in the treatment of Wilson's disease, cystinuria, and in patients with severe, active rheumatoid arthritis who have failed to respond to an adequate trial of conventional therapy. Available evidence suggests that CUPRIMINE is not of value in ankylosing spondylitis. Wilson's Disease Wilson's disease (hepatolenticular degeneration) occurs in individuals who have inherited an autosomal-recessive defect that leads to an accumulation of copper far in excess of metabolic requirements. The excess copper is deposited in several organs and tissues, and eventually produces pathological effects primarily in the liver, where damage progresses to postnecrotic cirrhosis, and in the brain, where degeneration is widespread. Copper is also deposited as characteristic, asymptomatic, golden-brown Kayser-Fleischer rings in the corneas of all patients with cerebral symptomatology and some patients who are either asymptomatic or manifest only hepatic symptomatology. Two types of patients require treatment for Wilson's disease: the symptomatic, and the asymptomatic in whom it can be assumed the disease will develop in the future if the patient is not treated. The diagnosis, if suspected on the basis of family or individual history or physical examination, can be confirmed if the plasma copper-protein ceruloplasmin** is less than 20 mg/dL and either a quantitative determination in a liver biopsy specimen shows an abnormally high concentration of copper (greater than 250 mcg/g dry weight) or Kayser-Fleischer rings are present. Treatment has two objectives: 1) to minimize dietary intake of copper; 2) to promote excretion and complex formation (i.e., detoxification) of excess tissue copper. The first objective is attained by a daily diet that contains no more than 1 or 2 mg of copper. Such a diet should exclude, most importantly, chocolate, nuts, shellfish, mushrooms, liver, molasses, broccoli, and cereals and dietary supplements enriched with copper, and be composed to as great an extent as possible of foods with a low copper content. Distilled or demineralized water should be used if the patient's drinking water contains more than.

Syprine

Generic Name
Trientine

Syprine

Generic Name
Trientine
Form: Capsule
Method of administration: Oral
FDA approval date: November 08, 1985
Classification: Copper Chelator
Trientine hydrochloride is indicated in the treatment of patients with Wilson's disease who are intolerant of penicillamine. Clinical experience with trientine hydrochloride is limited and alternate dosing regimens have not been well-characterized; all endpoints in determining an individual patient's dose have not been well defined. Trientine hydrochloride and penicillamine cannot be considered interchangeable. Trientine hydrochloride should be used when continued treatment with penicillamine is no longer possible because of intolerable or life endangering side effects. Unlike penicillamine, trientine hydrochloride is not recommended in cystinuria or rheumatoid arthritis. The absence of a sulfhydryl moiety renders it incapable of binding cystine and, therefore, it is of no use in cystinuria. In 15 patients with rheumatoid arthritis, trientine hydrochloride was reported not to be effective in improving any clinical or biochemical parameter after 12 weeks of treatment. Trientine hydrochloride is not indicated for treatment of biliary cirrhosis.

Cuvrior

Generic Name
Trientine Tetrahydrochloride

Cuvrior

Generic Name
Trientine Tetrahydrochloride
Form: Tablet
Method of administration: Oral
FDA approval date: September 14, 2022
Classification: Copper Chelator
CUVRIOR is indicated for the treatment of adult patients with stable Wilson's disease who are de-coppered and tolerant to penicillamine. CUVRIOR is a copper chelator indicated for the treatment of adult patients with stable Wilson's disease who are de-coppered and tolerant to penicillamine. ( 1 )
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