Wilson Disease

Wilson disease symptoms often appear between the ages of 6 and 20 years old but may begin as late as 40 years old.³ Neurological changes are commonly the first symptom seen in Wilson Disease and up to 20% will have already seen a psychiatrist for their concerns by the time they receive their diagnosis.⁷ Common neurological symptoms include: ⁴

• Tremor
• Anxiety
• Depression
• Movement or sleep disorders
• Difficulty swallowing (dysphagia)
• Difficulty speaking (dysarthria)

The first signs of disease may include symptoms of liver disease. Some individuals may not experience these symptoms but may have elevated liver enzymes when getting routine blood work.⁴ Common symptoms associated with liver disease include: ⁴

• Yellowing of the skin or eyes (jaundice)
• Swelling of the legs and abdomen
• Excessive tiredness

Some additional symptoms that may be seen include: ⁴

• Kayser-Fleischer rings (rusty-brown rings in the corneas of the eyes)
• Kidney damage
• Menstrual irregularity
• Infertility
• Osteoporosis (weakening of bones)

Diagnosis for Wilson disease usually includes multiple tests and a complete medical history review.⁴ Although Wilson disease is a genetic condition, there is not a standard genetic test for diagnosis since there are over 300 mutations that have been associated with the condition.⁴

Tests that may be used to help diagnose Wilson Disease include:^4,8

• Serum ceruloplasmin blood test (low levels seen in Wilson Disease)
• Non-ceruloplasmin-bound copper (high levels seen in Wilson Disease)
• 24-hour urinary copper excretion test (high levels seen in Wilson Disease)
• Ophthalmologic slit lamp (exams for presence of Kayser-Fleischer rings/ copper deposits)
• Liver biopsy
• Genetic test

Treatment for Wilson Disease is lifelong, and the goals of treatment include:1,3,4,5

• Decreasing copper levels
• Preventing liver transplantation
• Improving neurological symptoms
• Improving quality of life

Treatment is typically split into two phases: the “de-coppering” phase and maintenance phase. Individuals with symptoms will first complete the “de-coppering” phase of treatment with copper chelating medications like penicillamine (Cuprimine) or trientine hydrochloride (Syprine, Clovique). Once excess copper has been removed from the body, maintenance therapy can be started with zinc acetate (Galzin) or trientine tetrahydrochloride (Cuvrior), or continued with penicillamine.^1,4,5,9,10

It is important to also consider lifestyle modifications. Some recommendations include following a low copper diet and avoiding foods like nuts, chocolate, and shellfish.³