Wilson's disease (patient information): Difference between revisions
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'''For the WikiDoc page for this topic, click [[Wilson's disease|here]]''' | '''For the WikiDoc page for this topic, click [[Wilson's disease|here]]''' | ||
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{{Template:Wilson's disease (patient information)}} | {{Template:Wilson's disease (patient information)}} | ||
==Overview== | ==Overview== | ||
Wilson's 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. | Wilson's 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]]. | ||
==What are the symptoms?== | ==What are the symptoms?== | ||
*Abnormal posture of arms and legs | *Abnormal posture of arms and legs | ||
*Confusion or delirium | *Confusion or [[delirium]] | ||
*Dementia | *[[Dementia]] | ||
*Difficulty moving arms and legs, stiffness | *Difficulty moving arms and legs, stiffness | ||
*Difficulty walking (ataxia) | *Difficulty walking ([[ataxia]]) | ||
*Emotional or behavioral changes | *Emotional or behavioral changes | ||
*Enlargement of the abdomen (abdominal distention) | *Enlargement of the [[abdomen]] (abdominal distention) | ||
*Personality changes | *Personality changes | ||
*Phobias, distress (neuroses) | *[[Phobias]], distress (neuroses) | ||
*Slow movements | *Slow movements | ||
*Slow or decreased movement and expressions of the face | *Slow or decreased movement and expressions of the face | ||
*Speech impairment | *Speech impairment | ||
*Tremors of the arms or hands | *[[Tremors]] of the arms or hands | ||
*Uncontrollable movement | *Uncontrollable movement | ||
*Unpredictable and jerky movement | *Unpredictable and jerky movement | ||
*Vomiting blood | *Vomiting [[blood]] | ||
*Weakness | *Weakness | ||
*Yellow skin (jaundice) or yellow color of the white of the eye (icterus) | *Yellow skin ([[jaundice]]) or yellow color of the white of the eye ([[Icterus (medicine)|icterus]]) | ||
==Who is at the highest risk?== | ==Who is at the highest risk?== | ||
Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder. | * Wilson's disease is a rare [[inherited]] disorder. If both parents carry an abnormal [[gene]] for Wilson's disease, there is a 25% chance in each [[pregnancy]] that the child will have the disorder. | ||
Wilson's disease causes the body to take in and keep too much 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 working correctly. | * Wilson's disease causes the body to take in and keep too much [[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 working correctly. | ||
This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4. | * This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the [[symptoms]] begin to show by age 4. | ||
==Diagnosis== | ==Diagnosis== | ||
A slit-lamp eye examination may show: | A [[slit-lamp]] eye examination may show: | ||
*Limited eye movement | *Limited eye movement | ||
*Rusty or brown-colored ring around the iris (Kayser-Fleischer rings) | *Rusty or brown-colored ring around the iris ([[Kayser-Fleischer ring|Kayser-Fleischer rings]]) | ||
A physical examination may show signs of: | A physical examination 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) | *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 cirrhosis, splenomegaly, and liver necrosis) | *[[Liver]] or [[spleen]] disorders (including [[cirrhosis]], [[splenomegaly]], and [[liver]] [[necrosis]]) | ||
Lab tests may include: | Lab tests may include: | ||
*Complete blood count (CBC) | *[[Complete blood count]] ([[Complete blood count|CBC]]) | ||
*Serum ceruloplasmin | *Serum [[ceruloplasmin]] | ||
*Serum copper | *Serum [[copper]] | ||
*Serum uric acid | *Serum [[uric acid]] | ||
*Urine copper | *Urine [[copper]] | ||
If there are liver problems, lab tests may find: | If there are liver problems, lab tests may find: | ||
*High AST and ALT | *High [[Aspartate transaminase|AST]] and [[Alanine transaminase|ALT]] | ||
*High bilirubin | *High [[bilirubin]] | ||
*High PT and | *High [[PT]] and [[Partial thromboplastin time|aPTT]] | ||
*Low albumin | *Low [[albumin]] | ||
Other tests may include: | Other tests may include: | ||
*24-hour urine copper | *24-hour urine [[copper]] level | ||
*Abdominal x-ray | *Abdominal [[X-rays|x-ray]] | ||
*Abdominal MRI | *Abdominal [[Magnetic resonance imaging|MRI]] | ||
*CT scan of the abdomen | *[[Computed tomography|CT scan]] of the abdomen | ||
*Head CT scan | *Head [[Computed tomography|CT scan]] | ||
*Head MRI | *Head [[MRI]] | ||
*Liver biopsy | *[[Liver biopsy]] | ||
The gene responsible for Wilson's disease has been found. It is called ATP7B. DNA testing is available for this gene. However, testing is complicated because different ethnic groups may have different changes (mutations) in this gene. | The [[gene]] responsible for Wilson's disease has been found. It is called ATP7B. [[DNA]] testing is available for this [[gene]]. However, testing is complicated because different ethnic groups may have different changes ([[mutations]]) in this [[gene]]. | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
Call your health care provider if you have symptoms of Wilson's disease. Call a genetic counselor if you have a history of Wilson's disease in your family and you are planning to have children. | Call your health care provider if you have symptoms of Wilson's disease. Call a [[genetic]] counselor if you have a history of Wilson's disease in your family and you are planning to have children. | ||
==Treatment options== | ==Treatment options== | ||
The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation -- certain medications can bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong. | The goal of treatment is to reduce the amount of [[copper]] in the [[tissues]]. This is done by a procedure called [[chelation]] -- certain medications can bind to [[copper]] and help remove it through the [[kidneys]] or [[gut]]. Treatment must be lifelong. | ||
The following medications may be used: | The following medications may be used: | ||
*Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine. | *[[Penicillamine]] (Cuprimine, Depen) binds to [[copper]] and leads to increased release of [[copper]] in the urine. | ||
*Trientine (Syprine) binds (chelates) the copper and increases its release through the urine. | *[[Trientine]] (Syprine) binds ([[Chelation|chelates]]) the [[copper]] and increases its release through the [[urine]]. | ||
*Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract. | *Zinc acetate (Galzin) blocks [[copper]] from being absorbed in the [[Gastrointestinal tract|intestinal tract]]. | ||
Vitamin E supplements may also be used. | [[Vitamin E]] supplements may also be used. | ||
Sometimes, medications that chelate copper (especially penicillamine) can affect the function of the brain and nervous system (neurological function). Other medications under investigation may bind copper without affecting neurological function. | Sometimes, medications that chelate [[copper]] (especially [[penicillamine]]) can affect the function of the [[brain]] and [[nervous system]] (neurological function). Other medications under investigation may bind [[copper]] without affecting neurological function. | ||
A low-copper diet may also be recommended. Foods to avoid include: | A low-copper diet may also be recommended. Foods to avoid include: | ||
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*Chocolate | *Chocolate | ||
*Dried fruit | *Dried fruit | ||
*Liver | *[[Liver]] | ||
*Mushrooms | *Mushrooms | ||
*Nuts | *Nuts | ||
*Shellfish | *Shellfish | ||
You may want to drink distilled water because most tap water flows through copper pipes. Avoid using copper cooking utensils. | You may want to drink distilled water because most tap water flows through [[copper]] pipes. Avoid using [[copper]] cooking utensils. | ||
Symptoms may be treated with exercise or physical therapy. People who are confused or unable to care for themselves may need special protective measures. | [[Symptoms]] may be treated 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. | A [[liver]] transplant may be considered in cases where the liver is severely damaged by the disease. | ||
==Where to find medical care for Wilson's disease?== | ==Where to find medical care for Wilson's disease?== | ||
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==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
Lifelong treatment is needed to control Wilson's disease. 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. | Lifelong treatment is needed to control Wilson's disease. 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. | ||
==Possible complications== | ==Possible complications== | ||
*Anemia (hemolytic anemia is rare) | *[[Anemia]] (hemolytic [[anemia]] is rare) | ||
*Central nervous system complications | *[[Central nervous system]] complications | ||
*[[Cirrhosis (patient information)|Cirrhosis]] | *[[Cirrhosis (patient information)|Cirrhosis]] | ||
*Death of liver tissues | *Death of [[liver]] tissues | ||
*[[Fatty liver (patient information)|Fatty liver]] | *[[Fatty liver (patient information)|Fatty liver]] | ||
*[[Hepatitis (patient information)|Hepatitis]] | *[[Hepatitis (patient information)|Hepatitis]] | ||
*Increased number of bone fractures | *Increased number of [[bone]] [[fractures]] | ||
*Increased number of infections | *Increased number of [[infections]] | ||
*Injury caused by falls | *Injury caused by falls | ||
*[[Jaundice]] | *[[Jaundice]] | ||
*Joint contractures or other deformity | *[[Joint]] [[contractures]] or other deformity | ||
*Loss of ability to care for self | *Loss of ability to care for self | ||
*Loss of ability to function at work and home | *Loss of ability to function at work and home | ||
*Loss of ability to interact with other people | *Loss of ability to interact with other people | ||
*Loss of muscle mass (muscle atrophy) | *Loss of [[muscle mass]] (muscle atrophy) | ||
*Psychological complications | *[[Psychological]] complications | ||
*Side effects of penicillamine and other medications used to treat the disorder | *Side effects of [[penicillamine]] and other medications used to treat the disorder | ||
*Spleen problems | *[[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 not caught and treated early, Wilson's disease is fatal. | Liver failure and damage to the [[central nervous system]] ([[brain]], [[spinal cord]]) are the most common and dangerous effects of the disorder. If not caught and treated early, Wilson's disease is fatal. | ||
==Sources== | ==Sources== | ||
Latest revision as of 20:02, 19 September 2018
For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Varun Kumar, M.B.B.S.
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Wilson's disease |
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Wilson's disease On the Web |
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Overview
Wilson's 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.
What are the symptoms?
- 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)
Who is at the highest risk?
- Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder.
- Wilson's disease causes the body to take in and keep too much 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 working correctly.
- This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4.
Diagnosis
A slit-lamp eye examination may show:
- Limited eye movement
- Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)
A physical examination 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 cirrhosis, splenomegaly, and liver necrosis)
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:
Other tests may include:
- 24-hour urine copper level
- Abdominal x-ray
- Abdominal MRI
- CT scan of the abdomen
- Head CT scan
- Head MRI
- Liver biopsy
The gene responsible for Wilson's disease has been found. It is called ATP7B. DNA testing is available for this gene. However, testing is complicated because different ethnic groups may have different changes (mutations) in this gene.
When to seek urgent medical care?
Call your health care provider if you have symptoms of Wilson's disease. Call a genetic counselor if you have a history of Wilson's disease in your family and you are planning to have children.
Treatment options
The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation -- certain medications can bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong.
The following medications may be used:
- Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine.
- Trientine (Syprine) binds (chelates) the copper and increases its release through the urine.
- Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract.
Vitamin E supplements may also be used.
Sometimes, medications that chelate copper (especially penicillamine) can affect the function of the brain and nervous system (neurological function). Other medications 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 treated 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.
Where to find medical care for Wilson's disease?
Directions to Hospitals Treating Wilson's disease
What to expect (Outlook/Prognosis)?
Lifelong treatment is needed to control Wilson's disease. 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.
Possible complications
- 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 medications 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 not caught and treated early, Wilson's disease is fatal.
Sources
http://www.nlm.nih.gov/medlineplus/ency/article/000785.htm
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