Wilson Disease


Article Author:
Hammad Chaudhry


Article Editor:
Arayamparambil Anilkumar


Editors In Chief:
Susan Jeno
Sarah Fabiano


Managing Editors:
Orawan Chaigasame
Carrie Smith
Abdul Waheed
Frank Smeeks
Kristina Soman-Faulkner
Benjamin Eovaldi
Radia Jamil
Sobhan Daneshfar
Pritesh Sheth
Hassam Zulfiqar
Steve Bhimji
John Shell
Matthew Varacallo
Ahmad Malik
Mark Pellegrini
James Hughes
Beata Beatty
Hajira Basit
Phillip Hynes
Kavin Sugumar


Updated:
3/15/2019 10:19:08 AM

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.

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]

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]

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.

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).

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. 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.

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.

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.

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.

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. The disorder is best managed by a multidisciplinary team that includes a gastroenterologist, geneticist, 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. 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.

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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Penicillamine is used as a treatment for what condition?



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



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In Wilson disease, there is excess deposition of copper in the tissues. This is due to decreased levels of which of the following?



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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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What is the drug of choice for Wilson disease?



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Which of the following does NOT characterize hepatolenticular degeneration?



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In a patient with Wilson disease, there is an accumulation of which of the following?



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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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What drug is used to treat Wilson disease?



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Wilson disease consists of an excess of which of the following elements?



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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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What percent of patients with Wilson disease develop seizures?



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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 organs is affected first in Wilson disease?



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



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Which one of the following statements is not true about the neuropsychiatric manifestations of 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 patient is diagnosed with Wilson disease. What metal is responsible?



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A young woman was turned down for blood donation secondary to elevated liver enzymes. The blood bank told her that her screen of viral hepatitis was negative. Exam shows mild jaundice, a liver span of 12 cm with a smooth inferior edge, and a dark circle around her iris. Select the most useful test to diagnose this patient.



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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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Select the true statement about Wilson disease.



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Which of the following is true regarding Wilson disease?



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Which of the following nonhepatic signs and symptoms would not be seen with Wilson disease?



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Which of the following would not be helpful in the treatment of Wilson disease?



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Which of the following is not a chelating agent used in Wilson disease?



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Which would not be expected to be seen in Wilson disease?



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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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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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Wilson Disease - References

References

Hedera P, Wilson's disease: A master of disguise. Parkinsonism     [PubMed]
Nagral A,Sarma MS,Matthai J,Kukkle PL,Devarbhavi H,Sinha S,Alam S,Bavdekar A,Dhiman RK,Eapen CE,Goyal V,Mohan N,Kandadai RM,Sathiyasekaran M,Poddar U,Sibal A,Sankaranarayanan S,Srivastava A,Thapa BR,Wadia PM,Yachha SK,Dhawan A, Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India. Journal of clinical and experimental hepatology. 2019 Jan-Feb;     [PubMed]
Pfeiffenberger J,Lohse CM,Gotthardt D,Rupp C,Weiler M,Teufel U,Weiss KH,Gauss A, Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment. Journal of inherited metabolic disease. 2019 Feb 11;     [PubMed]
Gerosa C,Fanni D,Congiu T,Piras M,Cau F,Moi M,Faa G, Liver pathology in Wilson's disease: From copper overload to cirrhosis. Journal of inorganic biochemistry. 2019 Apr;     [PubMed]
Takkar B,Temkar S,Venkatesh P, Wilson disease: Copper in the eye. The National medical journal of India. 2018 Mar-Apr;     [PubMed]
Zou L,Song Y,Zhou X,Chu J,Tang X, Regional morphometric abnormalities and clinical relevance in Wilson's disease. Movement disorders : official journal of the Movement Disorder Society. 2019 Feb 28;     [PubMed]
Capone K,Azzam RK, Wilson's Disease: A Review for the General Pediatrician. Pediatric annals. 2018 Nov 1;     [PubMed]
Horn N,Møller LB,Nurchi VM,Aaseth J, Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time. Journal of inorganic biochemistry. 2019 Jan;     [PubMed]
Duncan A,Yacoubian C,Beetham R,Catchpole A,Bullock D, The role of calculated non-caeruloplasmin-bound copper in Wilson's disease. Annals of clinical biochemistry. 2017 Nov;     [PubMed]
Stezin A,Kamble N,Jhunjhunwala K,Prasad S,Pal PK, Clinical Utility of Longitudinal Measurement of Motor Threshold in Wilson's Disease. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 2019 Jan 22;     [PubMed]
Qu W,Wei L,Zhu ZJ,Sun LY,Liu Y,Zeng ZG, Considerations for Use of Domino Cross-Auxiliary Liver Transplantation in Metabolic Liver Diseases: A review of Case Studies. Transplantation. 2019 Feb 18;     [PubMed]
Choudhary NS,Saigal S,Saraf N,Rastogi A,Goja S,Bhangui P,Thiagrajan S,Gautam D,Govil D,Vohra V,Soin AS, Outcome of Living Donor Liver Transplantation for Wilson's Disease in Adults: A Single Center Experience. Journal of clinical and experimental hepatology. 2018 Jun;     [PubMed]
Belkhribchia MR,Belabbes S,Loukili M,El Hasni I,El Makkaoui M, An unusual and devastating presentation of neurologic Wilson's disease with extensive brain MRI lesions. Presse medicale (Paris, France : 1983). 2018 Jun;     [PubMed]

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