Hepatolenticular degeneration

Alternative names
Wilson’s disease

Definition
Wilson’s disease is an inherited disorder where there is excessive amounts of copper in the body. This causes a variety of effects, including liver disease and damage to the nervous system.

Causes, incidence, and risk factors

Wilson’s disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson’s disease, there is a 25% chance that each of their children will develop the disorder (i.e., it is an autosomal recessive disease).

Wilson’s disease causes the body to absorb and retain excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop functioning properly. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder. If not caught and treated early, Wilson’s disease is fatal.

It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disorder most commonly appears in people under 40 years old. In children, the symptoms begin to be expressed by around 4 years old.

Symptoms

     
  • enlargement of the abdomen (abdominal distention)  
  • splenomegaly  
  • yellow skin (jaundice) or eye color (icterus)  
  • vomiting blood  
  • weakness  
  • tremors of the arms or hands  
  • difficulty moving extremities, stiffness  
  • abnormal extremity posture (dystonia)  
  • slow movements  
  • difficulty walking  
  • movement - unpredictable and jerky  
  • movement - uncontrollable  
  • movement - slow  
  • weakness of the head, neck, face, or arms  
  • speech impairment, poor enunciation  
  • slow or decreased facial movement/expression  
  • emotional or behavioral changes  
  • confusion or delirium  
  • dementia (loss of multiple brain functions)

Signs and tests

An eye examination may show:

     
  • Kayser-Fleischer rings (rusty or brown-colored ring around the iris).  
  • Eye movement may be restricted.

A physical examination may show signs of:

     
  • Liver or spleen disorders (including cirrhosis and liver necrosis)  
  • Damage to the central nervous system including loss of coordination, loss of muscle control, muscle tremors, loss of cognitive and intellectual functions, loss of memory, confusion (delirium or dementia), and other damage.

Lab findings may include:

     
  • Serum ceruloplasmin - low (although it is normal in 5% of cases)  
  • Serum copper - low in spite of the copper deposits in tissues  
  • Urine copper - high  
  • CBC - may show hemolytic anemia or decreased white blood cell count  
  • Serum uric acid levels - low

If there are liver problems, lab abnormalities include:

     
  • PT/PTT - elevated  
  • SGOT/SGPT - elevated  
  • Albumin - decreased  
  • Bilirubin - elevated

Other tests findings may include:

     
  • Head MRI or head CT scan may be abnormal, especially in a region of the brain called the basal ganglia, but nonspecific.  
  • Abdominal x-ray, abdominal MRI, or CT scan of the abdomen may indicate liver disease or other abnormality.  
  • Liver biopsy or biopsy of the kidneys or other suspect tissue shows deposits of copper, and shows tissue changes that indicate damage to the tissues. This disease may increase the protein and amino acid level in a 24-hr. urine specimen.

The specific gene responsible for the abnormality (mutation) that causes Wilson’s disease has been identified. It is called ATP7B. However, a simple genetic test to screen for Wilson’s disease has not yet been developed. Testing is complicated because there are many possible mutations from this gene.

Treatment

The goals of treatment are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder. Treatment must be lifelong.

The following medications may be used:

     
  • Zinc acetate (Galzin), which blocks the absorption of copper in the intestinal tract.  
  • Trientine (Syprine), which binds or chelates the copper and leads to increased urinary excretion of the metal.  
  • Penicillamine (Cuprimine, Depen), which also binds or chelates copper and leads to increased urinary excretion.

Sometimes, medication that chelates copper, especially penicillamine, can worsen the person’s neurologic function. There are other medications under investigation which will, hopefully, bind copper without risking possible worsening of neurologic function.

In addition, a low-copper diet may be recommended, including avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Distilled water may be suggested because most tap water flows through copper pipes. Avoid using copper cooking utensils.

Symptoms are treated as appropriate, including exercises or physical therapy, and protective measures for people who are confused or unable to care for themselves.

Support Groups

Wilson disease Support Groups can be found at http://www.geneticalliance.org.

Expectations (prognosis)
Lifelong treatment is required to control the disorder. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.

Complications

     
  • acute hepatitis  
  • chronic hepatitis  
  • cirrhosis  
  • death of liver tissues  
  • spleen dysfunction  
  • anemia  
  • increased number of infections  
  • injury caused by falls  
  • loss of ability to interact with other people  
  • loss of ability to function at work and home  
  • loss of ability to care for self  
  • loss of muscle mass (atrophy)  
  • joint contractures or other deformity  
  • increased incidence of bone fractures  
  • side effects of penicillamine  
  • side effects of other medications used to treat the disorder

Calling your health care provider
Call your health care provider if symptoms indicate Wilson’s disease may be present. Call a genetic counselor if Wilson’s disease is present in your family.

Prevention
Genetic counseling is recommended for persons with a family history of Wilson’s disease.

Johns Hopkins patient information

Last revised: December 3, 2012
by Martin A. Harms, M.D.

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