Wilson’s Disease – Diagnosis, Symptoms and Treatment
Medically reviewed by Dr. Po-Chang Hsu, MD, MS
Updated - February 8, 2021
Dr. Po-Chang Hsu is a medical doctor from Tufts University in Boston, Massachusetts, interested in pediatrics and neonatology.
What is Wilson's Disease?
Wilson's disease is a medical condition characterized by liver, neurologic, and psychological abnormalities related to copper's deposition in the liver and brain. The condition occurs due to impaired copper metabolism, which results in the copper build-up in tissues. Most patients are diagnosed at age 5-35. Untreated Wilson's disease frequently results in a liver injury that often advances to liver cirrhosis and end-stage liver disease. Copper accumulation in the brain leads to movement abnormalities that progressively worsen – in late stages, patients often have absent movement and speech (akinetic mutism).
If left untreated, this disease leads to death – most patients die from liver failure. Due to this condition's importance, patients must understand its causes, symptoms, and treatment. By the end of this article, you will have the answers to these essential questions
- What causes Wilson's Disease?
- How common is Wilson's Disease?
- What are the symptoms and signs of Wilson's Disease?
- How is Wilson's Disease diagnosed?
- How is Wilson's Disease treated?
What Causes Wilson's Disease?
Wilson's disease is caused by impaired copper metabolism, leading to the accumulation of copper in the body. Copper deposits into organs such as the liver and brain, producing abnormal symptoms and signs.
Elevated copper levels in the liver lead to injury and inflammation. Long-term liver inflammation typically causes scarring of the liver (cirrhosis). Patients may develop signs of chronic liver disease or liver failure. Copper deposition in brain tissue also results in neuronal injury and death, resulting in slurred speech, movement abnormalities, and depression. This may progressively worsen into a condition called akinetic mutism - absent movement or speech.
How Common is Wilson's Disease?
This medical condition is uncommon in the United States. Studies show that the condition affects men and women equally. Women have a higher likelihood of developing acute liver failure. Wilson's disease has a worldwide prevalence of approximately 1 case per 30,000 live births. About 1 person in 90 has an abnormal copy of the ATP7B gene, highly associated with the disease.
Signs and Symptoms
Symptoms of Wilson's disease often include a combination of liver, neurologic, and psychological features:
Hepatic findings may include acute hepatitis, chronic hepatitis, steatosis (fatty liver), and cirrhosis (liver scarring). Liver cirrhosis may produce the following complications:
- Confusion – hepatic encephalopathy
- Easy bleeding & bruising – coagulopathy
- Jaundice – yellow discoloration of the skin
- Swelling in the legs – lower extremity edema
- Ascites – increased intra-abdominal fluid
- Spontaneous bacterial peritonitis (SBP)
- Bad breath – fetor hepaticus
- Increased risk for infection
- Gynecomastia and loss of pubic hair
- Upper gastrointestinal bleeding – esophageal varices
- Liver cancer
The neurologic manifestations often include:
- Dysarthria – slurred speech
- Gait abnormalities – trouble walking, ataxia
- Dystonia – abnormal muscle contraction/tone
- Tremor – shaking
Psychological symptoms often occur with neurologic disease and include:
- Personality change
Kayser-Fleischer rings are a highly specific finding on physical examination characterized by brown discoloration around the iris. It is caused by copper deposition in Descemet's membrane in the cornea of the eye.
The diagnosis is suggested based on symptoms, history, and physical examination but typically confirmed with laboratory and imaging studies. Your doctor will typically begin by ordering a CMP (comprehensive metabolic panel). If you have an abnormal liver function, they will usually order serum ceruloplasmin and copper levels. Additional blood tests often include a CBC (complete blood cell count) and coagulation studies (PT/INR, PTT). They will also usually check your cholesterol levels and screen for diabetes – these are risk factors for fatty liver disease.
Patients with elevated serum copper or low ceruloplasmin levels typically require a 24-hour urinary copper excretion. Individuals with suspected conditions may be referred to an ophthalmologist for an ocular slit-lamp examination evaluating Kayser-Fleischer rings.
Individuals with signs of chronic liver disease generally require abdominal ultrasound or CT scan. Occasionally, your doctor will order an MRI of the abdomen. Patients with advanced liver disease may require upper endoscopies to screen for esophageal varices.
Wilson's Disease Treatment
Wilson's disease is treated with lifelong medications that remove copper from tissues and prevent its re-accumulation. Patients are often prescribed chelating agents such as Cuprimine (Penicillamine) or Syprine (Trientine). Patients that are intolerant of chelating agents may benefit from zinc therapy.
Your doctor will typically monitor you regularly by checking 24-hour urine copper levels and free serum copper levels. Individuals with Wilson's disease and acute liver failure often require liver transplantation.
- Taly AB, Meenakshi-Sundaram S, Sinha S, et al. Wilson's disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007; 86:112. - https://www.ncbi.nlm.nih.gov/pubmed/17435591
- Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada. A practice guideline on Wilson's disease. Hepatology 2003; 37:1475.
- Roberts EA, Schilsky ML, American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson's disease: an update. Hepatology 2008; 47:2089. - https://www.aasld.org/sites/default/files/2019-06/Wilson-Disease2009.pdf
The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.