Wilson Disease


Article Author:
Hammad Chaudhry


Article Editor:
Arayamparambil Anilkumar


Editors In Chief:
Sisira Reddy
Joseph Nahas
Chokkalingam Siva


Managing Editors:
Avais Raja
Orawan Chaigasame
Khalid Alsayouri
Kyle Blair
Radia Jamil
Erin Hughes
Patrick Le
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Hassam Zulfiqar
Navid Mahabadi
Hussain Sajjad
Steve Bhimji
Muhammad Hashmi
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Abbey Smiley
Sarosh Vaqar
Mark Pellegrini
James Hughes
Beenish Sohail
Hajira Basit
Phillip Hynes
Sandeep Sekhon


Updated:
11/16/2019 2:37:05 PM

Introduction

Wilson disease or hepatolenticular degeneration is an autosomal recessive disease which results in an excess copper build up in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems too.[1][2][3]

Symptoms usually are related to the brain and liver. Liver-related symptoms include vomiting, weakness, abdominal fluid, swelling of the legs, yellowish skin, and itchiness. Brain symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and seeing or hearing things.

Wilson disease is an autosomal recessive condition caused by a mutation in the Wilson disease protein (ATP7B) gene. For a person to be affected, they inherit a copy of the gene from each parent. Diagnosis is difficult and involves blood tests, urine tests, and a liver biopsy. Genetic testing may be used to screen the family members of those affected.

The genetic defect is localized to arm 13q, which has been shown to alter the copper transporting ATP gene in the liver. The majority of patients with Wilson disease present within the first decade of life with liver dysfunction. The neuropsychiatric features are seen in the third/fourth decade of life. Wilson disease is rare but if not recognized and treated, it is fatal.

Etiology

Wilson disease is caused by one of the several mutations in ATP7B gene present on chromosome 13 which controls the protein transporter responsible for excreting excess copper into bile and out of the body. The major route of copper excretion (95%) is through the liver. This excess copper first accumulates in the liver and then spills into the blood and then to other organ systems.[4]

The excess copper leads to the generation of free radicals that causes oxidation of vital proteins and lipids. Early changes tend to occur in the mitochondria, nuclei, and peroxisomes.

Epidemiology

This disease affects 1 in every 30,000 individuals with a carrier frequency of 1 in every 90. Some populations have a higher incidence of Wilson disease due to the increased rate of consanguineous marriages. Both males and females are affected equally. The usual age of presentation is four to 40 years of age, but this disorder has been detected in children as young as three as well as adults as old as 70.

Pathophysiology

In Wilson disease, there is a faulty copper excretory mechanism, causing copper to accumulate in the liver and spill into the blood where it begins to accumulate in other organ systems like subthalamus, putamen, cortex, kidneys, and cornea. Copper is a transition metal, and excess iron levels lead to the formation of a toxic hydroxyl group and increase oxidative stress in the cells. This oxidative stress damages the cells and leads to the clinical manifestation, namely liver failure, behavioral problems, movement disorders, and Kayser-Fleisher rings in the cornea.[5]

Copper is needed by the body, predominantly as a cofactor for some enzymes such as ceruloplasmin, cytochrome c oxidase, dopamine beta-hydroxylase, superoxide dismutase and tyrosinase. Copper enters the body through the digestive tract with the help of a transporter protein in the cells of the small bowel, copper membrane transporter 1 (Ctr1; SLC31A1). This transporter helps to carry copper inside the cells where part of the copper is bound to metallothionein and part is carried by ATOX1 to an organelle known as the trans-Golgi network. In response to rising copper levels, an enzyme called ATP7A releases copper into the portal vein to the liver. Liver cells carry the CMT1 protein and metallothionein, and then ATOX1 binds it inside the cell. Once here, ATP7B links the copper to ceruloplasmin and releases it into the bloodstream, removing the excess copper by secreting it into bile. Both functions of ATP7B are dysfunctional in Wilson disease. Copper accumulates in the liver, and ceruloplasmin is secreted in a form that lacks copper and is rapidly degraded in the bloodstream.

When the copper level in the liver overwhelms the proteins that normally bind it, it results in oxidative damage through a process known as Fenton chemistry. This damage results in chronic active hepatitis, fibrosis, and cirrhosis. The liver releases copper into the bloodstream that is not bound to ceruloplasmin. This free copper precipitates throughout the body, particularly in the kidneys, eyes, and brain. In the brain, copper is deposited in the basal ganglia, putamen, and globus pallidus (i.e., lenticular nucleus); these areas participate in the coordination of movement and neurocognitive processes such as stimulating mood regulation. Damage to these areas produces the neuropsychiatric symptoms seen in Wilson disease.[6]

Histopathology

Light microscopy may show early changes including moderate fatty infiltration and glycogen deposition in the hepatocytes. The histological features may resemble chronic active hepatitis. Even though copper levels are elevated in the liver, early on the copper is located in the cytoplasm and may not be apparent with rhodamine staining.

History and Physical

Since Wilson disease is a heritable disorder, patients may have a positive family history. Patients may complain of abdominal pain, jaundice, weakness, personality changes, depression, migraine headaches, insomnia, seizure, and movement disorder chorea. Hemiballismus may also be present in the history.

About 30-50% of patients will have neuropsychiatric symptoms including asymmetrical tremor. Other symptoms may include drooling, ataxia, personality changes, masklike facies, and clumsiness.

On physical exam, the patient may have features of hepatosplenomegaly, isolated splenomegaly, or if the disease has progressed to cirrhosis, then stigmata of chronic liver disease may also be prominent. An eye exam may reveal jaundice and Kayser-Fleischer (KF) rings (note that the only other disorder with KF rings is Primary biliary cirrhosis). Other features of Wilson disease may include the presence of movement disorders, difficulty speaking, mask-like faces, spasticity, muscle rigidity, and skin findings of lunulae ceruleae (bluish discoloration at the base of fingernails).

Skeletal involvement is very common in Wilson disease and resembles premature osteoarthritis. The arthropathy usually involves the axial skeleton and spine.

Hemolytic anemia is seen in 10-15% of patients and is due to red cell lysis by the high copper concentration. When clinicians are faced with a young patient with impaired liver function, hemolytic anemia, and normal alkaline phosphatase levels, Wilson disease should be suspected. 

Renal symptoms are similar to Fanconi syndrome and urolithiasis.

Evaluation

If suspicion of Wilson disease is high, order a ceruloplasmin level. It will be less than 20 mg/dL (normal 20 mg/dL to 40 mg/dL). Urinary copper levels will be raised more than 100 mcg/dL. These two lab findings with Kayser-Fleischer rings are usually enough for diagnosis, but if there is the possibility of an alternate diagnosis, order a liver biopsy for liver copper levels; this the most accurate test for Wilson disease. Note low levels of ceruloplasmin may be seen in any protein deficiency disorder.

A positive result is a copper level greater than 250 mcg/g of dry liver tissue. An MRI is helpful to check for brain involvement. Liver function tests are deranged with elevated AST and ALT levels.[2][7]

Wilson disease should be suspected if symptoms consistent with the disease are present or if a relative has been found to have the disease. Most had slightly abnormal liver function tests and raised aspartate transaminase, alanine transaminase, and bilirubin levels. If the liver damage is significant, albumin is decreased as a result of the inability of damaged liver cells to produce this protein; likewise, the prothrombin time is prolonged as the liver is not producing proteins known as clotting factors. Alkaline phosphatase levels are low in those with Wilson-related acute liver failure. If there are neurological symptoms, MRI of the brain should show hyperintensities in the basal ganglia in the T2 setting. MRI may demonstrate the characteristic "face of the giant panda" pattern.

The ECG may reveal ventricular hypertrophy, arrhythmias and non-specific changes in T waves and ST segments.

Presence of Kayser Fleischer rings in the presence of neuropsychiatric symptoms is suggestive of Wilson disease.

There is no completely reliable test for Wilson disease, but levels of ceruloplasmin and copper in the blood, as well as copper excreted in urine during a 24-hour period, are used to form an impression of the amount of copper in the body. The gold standard is a liver biopsy.

First and second-degree relatives need to be screened for Wilson disease.

Treatment / Management

The mainstay therapy for Wilson disease is copper chelation therapy with penicillamine and trientine. Trientine is preferred because of fewer side effects. Oral zinc also may be given as it competes for absorption with copper at metallic ion transporter. It is vital to educate the patient on the adverse effects of chronic chelation therapy which can make symptoms worse. D-penicillamine can be used during pregnancy and does not pose any risk to the fetus

If the patient develops liver cirrhosis and its associated complication, TIPS can be offered for recurrent variceal bleed. Liver transplantation is curative.[8][9][10]

For muscle rigidity, spasticity, and parkinsonian features, baclofen, anticholinergics, GABA antagonists, and levodopa may be used.

A diet low in copper-containing foods is recommended with avoidance of mushrooms, chocolate, nuts, dried fruit, liver, and shellfish.

Physiotherapy and occupational therapy are beneficial in the neurologic form of the disease. The copper-chelating treatment takes up to six months to start working, and these therapies can assist in coping with ataxia, dystonia, and tremors as well as preventing contractures that can result from dystonia.

Staging

Staging of Wilson Disease

  • Stage 1: initial accumulation of copper in the liver
  • Stage 2: Acute redistribution of copper within the liver, followed by release into the systemic circulation
  • Stage 3: Chronic accumulation of copper into extrahepatic tissues including brain
  • Stage 4: Use of chelation therapy to restore copper balance

Prognosis

Patients with a prognostic score of 7 or more should be referred for a liver transplant. Patients with this score are generally dead within 8 weeks without treatment. After liver transplant, the prognosis is good.

Complications

  • Liver failure
  • Encephalopathy
  • Splenomegaly
  • Ascites
  • Variceal bleeding
  • Hepatorenal syndrome
  • Liver failure
  • Neuropsychiatric manifestations
  • Death

Postoperative and Rehabilitation Care

Long term monitoring is vital with measurements of urinary copper, CBC, free copper, renal and liver function at 4-8 week intervals. The eyes should also be examined. Most patients need lifelong chelation therapy with follow up. Patients need to avoid alcohol and all hepatotoxic medications.

Pearls and Other Issues

Wilson disease, if untreated, will eventually lead to chronic liver disease and may even progress to hepatocellular carcinoma in some cases. Genetic counseling is necessary to prevent the transmission of the defective gene.

Enhancing Healthcare Team Outcomes

Wilson disease has no cure and is progressive.  Without treatment it is fatal. The disorder is best managed by an interprofessional team that includes a gastroenterologist, geneticist, mental health nurse, neurologist, dietitian, nurse practitioner, pathologist, radiologist, and an internist.

The mainstay therapy for Wilson disease is copper chelation therapy with penicillamine and trientine. Some patients with early disease may be offered liver transplantation. However, it is the neurological features of the disease that are difficult to manage. The patient should be educated on the consumption of low copper-containing foods. The pharmacist should ensure that the patient is on no medication that can adversely affect the liver. Consumption of alcohol should be forbidden. The mental health nurse should periodically assess the neuropsychiatric symptoms, which may require additional drug treatments. While liver transplantation is curative, patients need to be monitored for the adverse effects of the immunosuppressant drugs. The pharmacist needs to monitor the chelation therapy because it also has many adverse effects that can worsen the symptoms. Sometimes, chelation therapy has to be discontinued. A team approach involving nursing, pharmacists, and clinicians will improve outcomes. [Level 5]

Physiotherapy and occupational therapy are beneficial in the neurologic form of the disease. Genetic counseling is necessary to prevent the transmission of the defective gene. Only with such a team approach can the mortality and morbidity of Wilson disease be reduced.

The outlook for most patients is guarded because there is no cure. The quality of life of most patients is poor. [11][12][13](Level V)


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Wilson Disease - Questions

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A male less than 40 years of age presents with tremor, rigidity, and bradykinesia. An abnormal level of which of the following is most likely to explain his symptoms?



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Decreased levels of which of the following is characteristic of Wilson disease?



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Which of the following is indicated by the presence of Alzheimer type 2 astrocytes?



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Which mineral is often used to treat patients with Wilson disease?



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In a patient with neurological features from Wilson disease, what is the predominant presenting symptom?



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What is the most common bone abnormality seen in patients with Wilson disease?



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How is the definitive diagnosis of Wilson disease made?



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Intracranial pathology in Wilson disease is mainly confined to which area?



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Which of the following laboratory findings is the most likely to be decreased in Wilson disease?



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Which of the following causes of seizures is associated with Kayser-Fleischer rings?



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A 66-year-old female has progressive memory impairment and depression over 6 months. Exam shows reduced blinking, rigidity and tremor of the arms, decrease arm swinging with walking, dementia, firmness of the liver, and a palpable spleen tip. MRI shows atrophy of the globus pallidus and putamen. EEG and CSF are normal. What is the most likely diagnosis?



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Which of the following best describes the inheritance of Wilson disease?



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A slit lamp examination reveals brown deposits occurring on the peripheral corneal endothelium. What is the most likely diagnosis?



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Which of the following lab findings are expected in Wilson disease?



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Which of the following findings is seen on the cerebrospinal fluid analysis in Wilson disease?



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Which of the following ophthalmologic findings suggests copper excess?



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Which of the following is the gold standard diagnostic test for Wilson disease?



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Which of the following medications can be used to increase urinary copper excretion?



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Which of the following lab results is useful in the follow up of a patient with Wilson disease?



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A young female is diagnosed with Wilson disease but has no symptoms. Her total bilirubin is 2.2 mg/dL (normal range 0.1-1.2 mg/dL) and AST is 92 U/L (normal range 0-37 U/L). Her prothrombin time is normal. Select the most appropriate treatment.



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Which would be the most likely presentation of Wilson disease?



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Which best explains how zinc works in the treatment of Wilson disease?



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A 64-year-old woman is admitted to psychiatry for self-injurious behavior, disinhibition, and emotional lability. Exam shows asymmetrical resting tremor and masklike facies. She is found to have cirrhosis. What is the most likely diagnosis?



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A 65-year-old male has had elevated liver enzymes for several years without a cause being found. He develops an intention tremor, dysarthria, psychiatric symptoms, and hepatomegaly. Urine shows glucose, uric acid, and protein. Select the most likely diagnosis.



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An overload of which of the following metals is present in Wilson disease?



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An adolescent patient has been suffering from new-onset tremor, chorea, depression, and gait disturbances over the past 6 months. The patient is found to have an ATP7B gene mutation and is subsequently treated with penicillamine. What is the most likely condition this patient has?



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A 25-year-old man presents to the clinic due to fatigue, anorexia and joint pains for the last two months. He denies any fever or chills, sick contacts or recent travel. He does not have any other medical problems and does not take any medications. He does not use any intravenous drugs and drinks alcohol only on social occasions. He is adopted and does not know about his family history. On physical exam, he is disoriented, his liver is enlarged, there is no ascites, and he has scleral icterus. On lab work, he is found to have a hemoglobin of 9 g/dL. His liver functions tests are total protein 6.8 g/dL, albumin 3.1 g/dL, AST 246 U/L, ALT 121 U/L, alkaline phosphatase 7 U/L, total bilirubin 6 g/dL, direct 0.3 g/dL, INR is 2.3. Which of the following is likely to be true for this patient?



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A 16-year-old boy is admitted to the hospital for tremors and difficulty walking. His mother says that he has experienced a gradual decline in his school performance over the last six months and has been acting differently. He recently underwent a drug test which came out negative for any known illicit drugs. He has also experienced weight loss of 5kg and a gradually decreasing appetite. On examination, tremors are present in both upper extremities, and he is unable to write correctly. The tremors worsen when he is asked to reach for an object. An unsteady, broad-based gait is also observed. His serum transaminases are elevated, and low serum ceruloplasmin is found. The patient is a medication to treat his condition. How does this drug help to improve his underlying symptoms?



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An autopsy is done on a 17-year-old male who passed away 24 hours ago. Sections of his brain are stained with rhodanine (see image). Because he was raised in a group home, there is no family history available. However, the caregiver states that he had been ill for many years. He was always in and out of the hospital. Because of his behavior, he was not adopted. The autopsy reveals that he has significant ascites, marked hepatosplenomegaly, digital clubbing, and numerous spider nevi on the trunk and abdomen. X-rays of the skeletal system show marked osteoporosis. Based on the presented history and image, what key neurological features would this patient have had while alive?

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  • Image 11342 Not availableImage 11342 Not available
    Image courtesy Statpearls
Attributed To: Image courtesy Statpearls



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A 17-year old male has been referred to the clinic by his healthcare provider. The mother states that the teen has a genetic disorder and has been in and out of the hospital for the past three months. He initially started to develop excessive salivation and had difficulty walking. He is emotionally labile and prone to self-harm. The patient is currently being worked up for his anemia, abnormal behavior, hepatic insufficiency, renal stones, and hematemesis. He is presently jaundiced and appears to have ascites. The clinician performs a slit lamp exam; the image is shown below. In the absence of other data, his diagnosis is very suggestive of the genetic disorder, if the eye findings occur in the presence of which other manifestation?

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  • Image 11346 Not availableImage 11346 Not available
    Image courtesy O. Chaigasame
Attributed To: Image courtesy O. Chaigasame



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Wilson Disease - References

References

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