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Wilson disease

Wilson's disease; Hepatolenticular degeneration

 

Wilson disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous system.

Causes

 

Wilson disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder.

Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes. The copper deposits cause tissue damage, tissue death, and scarring, which causes the affected organs to stop working correctly.

This condition is most common in eastern Europeans, Sicilians, and southern Italians, but it may occur in any group. Wilson disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4.

 

Symptoms

 

Symptoms may include:

  • Abnormal posture of arms and legs
  • Confusion or delirium
  • Dementia
  • Difficulty moving arms and legs, stiffness
  • Difficulty walking (ataxia)
  • Emotional or behavioral changes
  • Enlargement of the abdomen ( abdominal distention )
  • Personality changes
  • Phobias , distress (neuroses)
  • Slow movements
  • Slow or decreased movement and expressions of the face
  • Speech impairment
  • Tremors of the arms or hands
  • Uncontrollable movement
  • Unpredictable and jerky movement
  • Vomiting blood
  • Weakness
  • Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

 

Exams and Tests

 

A slit-lamp eye exam may show:

  • Limited eye movement
  • Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)

A physical exam may show signs of:

  • Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and IQ, loss of memory, and confusion (delirium or dementia)
  • Liver or spleen disorders (including hepatomegaly and  splenomegaly )

Lab tests may include:

  • Complete blood count ( CBC )
  • Serum ceruloplasmin
  • Serum copper
  • Serum uric acid
  • Urine copper

If there are liver problems, lab tests may find:

  • High AST and ALT
  • High bilirubin
  • High PT and PTT
  • Low albumin

Other tests may include:

  • 24-hour urine copper test
  • Abdominal x-ray
  • Abdominal MRI
  • CT scan of the abdomen
  • Head CT scan
  • Head MRI
  • Liver biopsy
  • Upper GI endoscopy

The gene that causes Wilson disease has been found. It is called ATP7B. DNA testing is available for this gene. Talk to your health care provider or a genetic counselor if you would like to have gene testing performed.

 

Treatment

 

The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation. Certain medicines are given that bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong.

The following medicines may be used:

  • Penicillamine (such as Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine.
  • Trientine (such as Syprine) binds (chelates) the copper and increases its release through the urine.
  • Zinc acetate (such as Galzin) blocks copper from being absorbed in the intestinal tract. 

Vitamin E supplements may also be used.

Sometimes, medicines that chelate copper (such as penicillamine) can affect the function of the brain and nervous system (neurological function). Other medicines under investigation may bind copper without affecting neurological function.

A low-copper diet may also be recommended. Foods to avoid include:

  • Chocolate
  • Dried fruit
  • Liver
  • Mushrooms
  • Nuts
  • Shellfish

You may want to drink distilled water because most tap water flows through copper pipes. Avoid using copper cooking utensils.

Symptoms may be managed with exercise or physical therapy. People who are confused or unable to care for themselves may need special protective measures.

A liver transplant may be considered in cases where the liver is severely damaged by the disease.

 

Support Groups

 

Wilson disease support groups can be found at www.wilsonsdisease.org and www.geneticalliance.org .

 

Outlook (Prognosis)

 

Life-long treatment is needed to control Wilson disease. The disorder may cause fatal effects, such as loss of liver function. Copper can have toxic effects on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.

 

Possible Complications

 

Complications may include:

  • Anemia ( hemolytic anemia is rare)
  • Central nervous system complications
  • Cirrhosis
  • Death of liver tissues
  • Fatty liver
  • Hepatitis
  • Increased number of bone fractures
  • Increased number of infections
  • Injury caused by falls
  • Jaundice
  • Joint contractures or other deformity
  • Loss of ability to care for self
  • Loss of ability to function at work and home
  • Loss of ability to interact with other people
  • Loss of muscle mass (muscle atrophy)
  • Psychological complications
  • Side effects of penicillamine and other medicines used to treat the disorder
  • Spleen problems

Liver failure and damage to the central nervous system (brain, spinal cord) are the most common and dangerous effects of the disorder. If Wilson disease is not caught and treated early, it can be fatal.

 

When to Contact a Medical Professional

 

Call your provider if you have symptoms of Wilson disease. Call a genetic counselor if you have a history of Wilson disease in your family and you are planning to have children.

 

Prevention

 

Genetic counseling is recommended for people with a family history of Wilson disease.

 

 

Open References

References

Cox DW, Roberts EA. Wilson disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease . 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 76.

Kaler SG, Schilsky ML. Wilson disease. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 211.

 
  • Central nervous system

    Central nervous system - illustration

    The central nervous system is comprised of the brain and spinal cord. The peripheral nervous system includes all peripheral nerves.

    Central nervous system

    illustration

  • Copper urine test

    Copper urine test - illustration

    The copper urine test is performed by collecting urine at specific times for a 24-hour period. The urine is tested for the amount of copper present. The copper urine test is used to determine the presence of Wilson disease, a sometimes fatal condition in which the buildup of excess copper damages the liver, and eventually the kidneys, eyes and brain.

    Copper urine test

    illustration

    • Central nervous system

      Central nervous system - illustration

      The central nervous system is comprised of the brain and spinal cord. The peripheral nervous system includes all peripheral nerves.

      Central nervous system

      illustration

    • Copper urine test

      Copper urine test - illustration

      The copper urine test is performed by collecting urine at specific times for a 24-hour period. The urine is tested for the amount of copper present. The copper urine test is used to determine the presence of Wilson disease, a sometimes fatal condition in which the buildup of excess copper damages the liver, and eventually the kidneys, eyes and brain.

      Copper urine test

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Wilson disease

           
             

            Review Date: 8/16/2016

            Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics at the University of Alabama, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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