BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuWilson diseaseWilson'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 ConfusionConfusion is the inability to think as clearly or quickly as you normally do. You may feel disoriented and have difficulty paying attention, remembe...ImageRead Article Now Book Mark Article DeliriumDelirium is sudden severe confusion due to rapid changes in brain function that can occur with physical or mental illness.ImageRead Article Now Book Mark Article Dementia DementiaDementia is a loss of brain function that occurs with certain diseases. It affects one or more brain functions such as memory, thinking, language, j...ImageRead Article Now Book Mark Article Difficulty moving arms and legs, stiffness Difficulty walking (ataxia) Difficulty walkingWalking abnormalities can be caused by many different types of problems. Problems with the joints, (such as arthritis), bones (such as deformities),...ImageRead Article Now Book Mark Article Emotional or behavioral changes Enlargement of the abdomen due to accumulation of fluid (ascites) Personality changes Phobias PhobiasA phobia is an ongoing intense fear or anxiety of a certain object, animal, activity, or setting that poses little to no actual danger.ImageRead Article Now Book Mark Article Slow movements Slow movementsUncontrolled 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 handsA 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...ImageRead Article Now Book Mark Article Uncontrollable movement Uncontrollable movementUncontrollable movements include many types of movements that you cannot control. They can affect the arms, legs, face, neck, or other parts of the ...ImageRead Article Now Book Mark Article Unpredictable and jerky movement Unpredictable and jerky movementJerky 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 bloodVomiting blood is regurgitating (throwing up) contents of the stomach that contains blood. Vomited blood may appear bright red, dark red, or look lik...Read Article Now Book Mark Article Weakness WeaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article 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)SplenomegalySplenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.ImageRead Article Now Book Mark Article Lab tests may include:Complete blood count (CBC) CBCA 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...ImageRead Article Now Book Mark Article Serum ceruloplasmin Serum ceruloplasminThe ceruloplasmin test measures the level of the copper-containing protein ceruloplasmin in the blood.ImageRead Article Now Book Mark Article Serum copper Serum uric acid Uric acidUric 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...ImageRead Article Now Book Mark Article Urine copperIf there are liver problems, lab tests may find:High AST and ALT ASTThe aspartate aminotransferase (AST) blood test measures the level of the enzyme AST in the blood.ImageRead Article Now Book Mark Article ALTThe alanine transaminase (ALT) blood test measures the level of the enzyme ALT in the blood.ImageRead Article Now Book Mark Article High bilirubin BilirubinThe 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...ImageRead Article Now Book Mark Article High PT and PTT PTProthrombin 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 Article PTTPartial 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 albuminAlbuminAlbumin 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...ImageRead Article Now Book Mark Article Other tests may include:24-hour urine copper test 24-hour urine copper testThe 24-hour urine copper test measures the amount of copper in a urine sample.ImageRead Article Now Book Mark Article Abdominal x-ray Abdominal x-rayAn 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...ImageRead Article Now Book Mark Article Abdominal MRI Abdominal MRIAn abdominal magnetic resonance imaging scan is an imaging test that uses powerful magnets and radio waves. The waves create pictures of the inside ...ImageRead Article Now Book Mark Article CT scan of the abdomen CT scan of the abdomenAn 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...ImageRead Article Now Book Mark Article Head CT scan Head CT scanA head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.ImageRead Article Now Book Mark Article Head MRI Head MRIA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article Liver biopsy Liver biopsyA liver biopsy is a test that takes a sample of tissue from the liver for examination.ImageRead Article Now Book Mark Article Upper GI endoscopyThe 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 ShellfishYou 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) AnemiaAnemia 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...ImageRead Article Now Book Mark Article Hemolytic anemiaAnemia 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 ...ImageRead Article Now Book Mark Article Central nervous system complications Cirrhosis Death of liver tissues Fatty liver Hepatitis HepatitisHepatitis is swelling and inflammation of the liver.ImageRead Article Now Book Mark Article Increased chances of bone fractures Increased number of infections Injury caused by falls Jaundice Joint contractures or other deformity ContracturesA contracture develops when the normally stretchy (elastic) tissues are replaced by nonstretchy (inelastic) fiber-like tissue. This tissue makes it ...ImageRead 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.Open ReferencesReferencesNational 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.AllVideoImagesTogCentral 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 systemillustrationCopper 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 testillustrationLiver anatomy - illustration The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.Liver anatomyillustrationCentral 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 systemillustrationCopper 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 testillustrationLiver anatomy - illustration The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.Liver anatomyillustrationRelated Information Liver disease(Condition)Hepatitis B(Condition)Cirrhosis(Condition)Anemia(Condition)Contracture deformity(Symptoms)Hepatitis - InDepth(In-Depth)Cirrhosis - InDepth(In-Depth)Anemia - InDepth(In-Depth) 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. 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Wilson diseaseWilson'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 ConfusionConfusion is the inability to think as clearly or quickly as you normally do. You may feel disoriented and have difficulty paying attention, remembe...ImageRead Article Now Book Mark Article DeliriumDelirium is sudden severe confusion due to rapid changes in brain function that can occur with physical or mental illness.ImageRead Article Now Book Mark Article Dementia DementiaDementia is a loss of brain function that occurs with certain diseases. It affects one or more brain functions such as memory, thinking, language, j...ImageRead Article Now Book Mark Article Difficulty moving arms and legs, stiffness Difficulty walking (ataxia) Difficulty walkingWalking abnormalities can be caused by many different types of problems. Problems with the joints, (such as arthritis), bones (such as deformities),...ImageRead Article Now Book Mark Article Emotional or behavioral changes Enlargement of the abdomen due to accumulation of fluid (ascites) Personality changes Phobias PhobiasA phobia is an ongoing intense fear or anxiety of a certain object, animal, activity, or setting that poses little to no actual danger.ImageRead Article Now Book Mark Article Slow movements Slow movementsUncontrolled 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 handsA 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...ImageRead Article Now Book Mark Article Uncontrollable movement Uncontrollable movementUncontrollable movements include many types of movements that you cannot control. They can affect the arms, legs, face, neck, or other parts of the ...ImageRead Article Now Book Mark Article Unpredictable and jerky movement Unpredictable and jerky movementJerky 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 bloodVomiting blood is regurgitating (throwing up) contents of the stomach that contains blood. Vomited blood may appear bright red, dark red, or look lik...Read Article Now Book Mark Article Weakness WeaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article 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)SplenomegalySplenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.ImageRead Article Now Book Mark Article Lab tests may include:Complete blood count (CBC) CBCA 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...ImageRead Article Now Book Mark Article Serum ceruloplasmin Serum ceruloplasminThe ceruloplasmin test measures the level of the copper-containing protein ceruloplasmin in the blood.ImageRead Article Now Book Mark Article Serum copper Serum uric acid Uric acidUric 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...ImageRead Article Now Book Mark Article Urine copperIf there are liver problems, lab tests may find:High AST and ALT ASTThe aspartate aminotransferase (AST) blood test measures the level of the enzyme AST in the blood.ImageRead Article Now Book Mark Article ALTThe alanine transaminase (ALT) blood test measures the level of the enzyme ALT in the blood.ImageRead Article Now Book Mark Article High bilirubin BilirubinThe 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...ImageRead Article Now Book Mark Article High PT and PTT PTProthrombin 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 Article PTTPartial 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 albuminAlbuminAlbumin 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...ImageRead Article Now Book Mark Article Other tests may include:24-hour urine copper test 24-hour urine copper testThe 24-hour urine copper test measures the amount of copper in a urine sample.ImageRead Article Now Book Mark Article Abdominal x-ray Abdominal x-rayAn 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...ImageRead Article Now Book Mark Article Abdominal MRI Abdominal MRIAn abdominal magnetic resonance imaging scan is an imaging test that uses powerful magnets and radio waves. The waves create pictures of the inside ...ImageRead Article Now Book Mark Article CT scan of the abdomen CT scan of the abdomenAn 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...ImageRead Article Now Book Mark Article Head CT scan Head CT scanA head computed tomography (CT) scan uses many x-rays to create pictures of the head, including the skull, brain, eye sockets, and sinuses.ImageRead Article Now Book Mark Article Head MRI Head MRIA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article Liver biopsy Liver biopsyA liver biopsy is a test that takes a sample of tissue from the liver for examination.ImageRead Article Now Book Mark Article Upper GI endoscopyThe 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 ShellfishYou 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) AnemiaAnemia 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...ImageRead Article Now Book Mark Article Hemolytic anemiaAnemia 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 ...ImageRead Article Now Book Mark Article Central nervous system complications Cirrhosis Death of liver tissues Fatty liver Hepatitis HepatitisHepatitis is swelling and inflammation of the liver.ImageRead Article Now Book Mark Article Increased chances of bone fractures Increased number of infections Injury caused by falls Jaundice Joint contractures or other deformity ContracturesA contracture develops when the normally stretchy (elastic) tissues are replaced by nonstretchy (inelastic) fiber-like tissue. This tissue makes it ...ImageRead 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.Open ReferencesReferencesNational 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.