Wilson disease
Wilson's disease; Hepatolenticular degenerationWilson 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 a defective 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. This causes tissue damage, tissue death, and scarring. The affected organs stop working normally.
This condition is most common in eastern Europeans, Sicilians, and southern Italians, but it may occur in any group. Wilson disease symptoms 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
- Arthritis
- Confusion or delirium
Confusion
Confusion is the inability to think as clearly or quickly as you normally do. You may feel disoriented and have difficulty paying attention, remembe...
Read Article Now Book Mark ArticleDelirium
Delirium is sudden severe confusion due to rapid changes in brain function that can occur with physical or mental illness.
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Dementia
Dementia is a loss of brain function that occurs with certain diseases. It affects one or more brain functions such as memory, thinking, language, j...
Read Article Now Book Mark Article - Difficulty moving arms and legs, stiffness
- Difficulty walking (ataxia)
Difficulty walking
Walking abnormalities can be caused by many different types of problems. Problems with the joints, (such as arthritis), bones (such as deformities),...
Read Article Now Book Mark Article - Emotional or behavioral changes
- Enlargement of the abdomen due to accumulation of fluid (ascites)
- Personality changes
- Phobias
Phobias
A phobia is an ongoing intense fear or anxiety of a certain object, animal, activity, or setting that poses little to no actual danger.
Read Article Now Book Mark Article - Slow movements
Slow movements
Uncontrolled or slow movement is a problem with muscle tone, usually in the large muscle groups. The problem leads to slow, uncontrollable jerky mov...
Read Article Now Book Mark Article - Slow or decreased movement and expressions of the face
- Speech impairment
- Tremors of the arms or hands
Tremors of the arms or hands
A tremor is a type of shaking movement. A tremor is most often noticed in the hands and arms. It may affect any body part, including the head, tong...
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Uncontrollable movement
Uncontrollable movements include many types of movements that you cannot control. They can affect the arms, legs, face, neck, or other parts of the ...
Read Article Now Book Mark Article - Unpredictable and jerky movement
Unpredictable and jerky movement
Jerky body movement is a condition in which a person makes fast movements that they cannot control and that have no purpose. These movements interru...
Read Article Now Book Mark Article - Vomiting blood
Vomiting blood
Vomiting blood is regurgitating (throwing up) contents of the stomach that contains blood. Vomited blood may appear bright red, dark red, or look lik...
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- 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)
Splenomegaly
Splenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.
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Lab tests may include:
- Complete blood count (CBC)
CBC
A complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...
Read Article Now Book Mark Article - Serum ceruloplasmin
Serum ceruloplasmin
The ceruloplasmin test measures the level of the copper-containing protein ceruloplasmin in the blood.
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- Serum uric acid
Uric acid
Uric acid is a chemical created when the body breaks down substances called purines. Purines are normally produced in the body and are also found in...
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If there are liver problems, lab tests may find:
- High AST and ALT
AST
The aspartate aminotransferase (AST) blood test measures the level of the enzyme AST in the blood.
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The alanine transaminase (ALT) blood test measures the level of the enzyme ALT in the blood.
Read Article Now Book Mark Article - High bilirubin
Bilirubin
The bilirubin blood test measures the level of bilirubin in the blood. Bilirubin is a yellowish pigment found in bile, a fluid made by the liver. Bi...
Read Article Now Book Mark Article - High PT and PTT
PT
Prothrombin time (PT) is a blood test that measures the time it takes for the liquid portion (plasma) of your blood to clot. It measures the functio...
Read Article Now Book Mark ArticlePTT
Partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. It can help tell if you have a bleeding problem...
Read Article Now Book Mark Article - Low blood albumin
Albumin
Albumin is a protein made by the liver. A serum albumin test measures the amount of this protein in the clear liquid portion of the blood. Albumin c...
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Other tests may include:
- 24-hour urine copper test
24-hour urine copper test
The 24-hour urine copper test measures the amount of copper in a urine sample.
Read Article Now Book Mark Article - Abdominal x-ray
Abdominal x-ray
An abdominal x-ray is an imaging test to look at organs and structures in the abdomen. Organs include the liver, spleen, stomach, and intestines. Wh...
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Abdominal MRI
An abdominal magnetic resonance imaging scan is an imaging test that uses powerful magnets and radio waves. The waves create pictures of the inside ...
Read Article Now Book Mark Article - CT scan of the abdomen
CT scan of the abdomen
An abdominal CT scan is an imaging method. This test uses x-rays to create cross-sectional pictures of the belly area. CT stands for computed tomog...
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Head CT scan
A head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.
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Head MRI
A head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...
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Liver biopsy
A liver biopsy is a test that takes a sample of tissue from the liver for examination.
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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 to learn if you should 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 some 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
More information and support for people with Wilson disease and their families can be found at:
- Wilson Disease Association: - wilsondisease.org
- Genetic Alliance: - geneticalliance.org
Outlook (Prognosis)
Lifelong 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)
Anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...
Read Article Now Book Mark ArticleHemolytic anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Normally, red ...
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- Cirrhosis
- Death of liver tissues
- Fatty liver
- Hepatitis
- Increased chances of bone fractures
- Increased number of infections
- Injury caused by falls
- Jaundice
- Joint contractures or other deformity
Contractures
A contracture develops when the normally stretchy (elastic) tissues are replaced by nonstretchy (inelastic) fiber-like tissue. This tissue makes it ...
Read Article Now Book Mark Article - 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 the disease is not caught and treated early, it can be fatal.
When to Contact a Medical Professional
Contact your provider if you have symptoms of Wilson disease. Contact 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.
References
National Institute of Diabetes and Digestive and Kidney Diseases website. Wilson disease. www.niddk.nih.gov/health-information/liver-disease/wilson-disease/definition-facts. Updated October 2018. Accessed November 11, 2022.
Roberts EA. Wilson disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 76.
Schilsky ML. Wilson disease. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 200.
Central nervous system and peripheral nervous system - illustration
The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes nerves outside the brain and spinal cord.
Central nervous system and peripheral nervous system
illustration
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
Liver anatomy - illustration
The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.
Liver anatomy
illustration
Central nervous system and peripheral nervous system - illustration
The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes nerves outside the brain and spinal cord.
Central nervous system and peripheral nervous system
illustration
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
Liver anatomy - illustration
The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.
Liver anatomy
illustration
Review Date: 7/26/2022
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.