The features of this condition include a combination of liver disease and neurological and psychiatric. Wilsons disease wd, which results from the defective atp7b protein product, is characterized by impaired copper metabolism and its clinical consequences vary from an asymptomatic state to fulminant hepatic failure, chronic liver disease with or without cirrhosis, neurological, and psychiatric manifestations. Wilson disease wd is an autosomalrecessive disorder of copper metabolism caused by mutations in the atp7b gene 1,2. Nov 27, 2017 wilsons disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Symptoms are typically related to the brain and liver. Wilson disease causes, symptoms, diagnosis, treatment. Jan 12, 2017 genetic testing also has a role in the diagnosis of wilson disease, but because of the large number of mutations seen in wilson disease, it is generally reserved for those in whom a diagnosis cannot be established in other ways, or to screen family members when the mutation in atp7b in the proband is known. From yale university school of medicine the spectrum of psychiatric symptoms in wilsons disease. Wilson disease wd is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. Some people with wilson disease may not develop signs or symptoms of liver disease until they develop acute liver failure. Diagnosing wilsons disease can be challenging because its signs and symptoms are often hard to tell from those of other liver diseases, such as hepatitis. Wilson disease wd is an autosomal recessive inherited disorder of copper metabolism, resulting in pathological accumulation of copper in many organs and tissues.
Wilson disease wd is an autosomal recessive inherited disorder caused by dysfunction of the copper transporter atp7b, which is expressed mainly in hepatocytes and is critical for hepatic copper homeostasis. Initially described by kinnear wilson in 1912, wilsons disease wd, or wilson disease, is the clinical condition resulting from mutations in the chromosome q14 in the region coding for the protein product atp7b, and occurs in a sporadic fashion as well as inherited as an autosomal recessive disease. Wilsons disease is an inherited condition in which copper is not excreted properly from the body. Jan 03, 2019 wilson disease or hepatolenticular degeneration is a rare genetic pathological condition in which there is accumulation of excessive copper in the liver, brain and other important organs of the body. Wilson disease is a rare genetic disorder with protean manifestations that should be considered in the. Liverrelated symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin and itchiness. If both parents carry a faulty gene for wilson disease, each child has a one in four chance of inheriting both faulty genes and being affected by wilson disease. Wilsons disease is a genetic disorder in which excess copper builds up in the body. The signs and symptoms of wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years.
Wilsons disease may be considered in any child over three years of age who has acute or chronic liver disease. Most people with wilson disease have no family history of the disorder. The list of known mutations causing wilson disease continues to grow, but advances in genetic testing may soon make it feasible to routinely perform genetic testing on individuals suspected of having wilson disease. You usually take in more copper than your body needs every day, and any excess is excreted.
Despite all the advances we still have to consider the diagnosis of wilson disease to test patients for this disorder and properly establish the diagnosis before committing to lifelong treatment. Wilson disease wd belongs to the group of the most frequent inherited liver disorders. Wilson s disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Wilsons disease diagnosis and treatment mayo clinic. Wilsons disease for patients and families eurowilson. Wilson disease is a genetic disease that prevents the body from removing extra copper about one in 30,000 people have wilson disease. Wilson disease is an inherited genetic disorder associated with abnormal copper metabolism that results in excess storage of copper, primarily in the liver and brain.
The pathogenesis of hepatic and neurologic wilson disease is a direct consequence of copper accumulation. As a result of copper deposition in various organs, patients, typically between the ages of 10 and 40 years old, can present with liver, neurological, or psychiatric symptoms. The hallmarks of the disease are the presence of liver disease, neurologic symptoms, and kayserfleischer corneal rings. Wilson disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs. Approach to diagnosis of wilson disease wd in a patient with unexplained liver disease. The wilson disease gene is a putative copper transporting ptype atpase similar to the menkes gene. If it is suspected that a child or a young person may have wilsons disease then there are a number of tests which can be used to confirm the diagnosis. Wilson disease may present with a wide range of liver disease. Wilson disease causes the body to take in and keep too much copper. Any copy, reuse, or modification of the content should be sufficiently credited to ccm health. Without treatment, high copper levels can cause lifethreatening organ damage.
Longterm survival of patients with wilson disease was similar to that of age and sexmatched controls. Apr 05, 2020 despite all the advances we still have to consider the diagnosis of wilson disease to test patients for this disorder and properly establish the diagnosis before committing to lifelong treatment. If the gene is inherited from both mum and dad, like in wilsons disease, it is described as being autosomal recessive. Classification and differential diagnosis of wilsons disease ncbi. These psychiatric alterations resulting from the accumulation of this heavy metal in the basal ganglia are some how less specific. Wilson disease is an autosomalrecessive disease of copper accumulation and copper toxicity caused by mutations in the atp7b gene, which is part of the biliary excretion of copper pathway.
The symptoms have worsened in the past few months to the point were he can barely speak or walk without falling. Some patients with clinically asymptomatic wd are found by family. The leading neurologic symptoms in wd are dysathria, dyspraxia, ataxia, and parkinsonianlike extrapyramidal. In childhood, it is known to have a predominant hepatic phenotype.
It presents in childhood, adolescence or adulthood with a wide range of clinical manifestations. It is likely that the low awareness for wdassociated neuropsychiatric signs and symptoms in this age group means that neurological wilsons disease is underdiagnosed in children and young people. The symptoms are similar to other health issues like heavy metal poisoning, hepatitis c, and cerebral palsy. Since copper tends to accumulate in the liver and brain first, the symptoms of the disease often appear most profoundly in these organ systems. Wilsons disease is an autosomal recessive disorder that results in copper accumulation and toxicity and occurs in about 1 out of every 40,000 people 1. The symptoms of wilsons disease vary by the location of the tissue damage. Wilson disease wd is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper.
Abstract wilson s disease wd or hepatolenticular degeneration is a rare, genetic and systemic disease, caused by a deficit in the metabolism of copper, leading to its accumulation in different organs, mainly the liver, followed by the central nervous system, especially the basal ganglia. Goal is to reduce copper in the body chelation a lifelong procedure where certain medications bind to copper and help move it through the body. The copper deposits in the liver, brain, kidneys, and eyes. Early symptoms of liver dysfunction are often similar to those seen with hepatitis.
Approach to diagnosis of wilson disease wd in a patient with a neurological disorder or psychiatric disease with or without liver disease. Some patients have symptoms of liver disease as well. The author, on behalf of the wilsons disease association wda, would like to. May 27, 2014 wilson disease wd is an autosomal recessive inherited disorder caused by dysfunction of the copper transporter atp7b, which is expressed mainly in hepatocytes and is critical for hepatic copper homeostasis. Management of wilson disease a pocket guide michael l. Wilsons disease is a rare autosomal recessive disorder with a.
Wilsons disease childrens liver disease foundation. The buildup of copper leads to damage in the liver, brain, and eyes. Most people with wilson s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well. He is 32 and had been having neurological symptoms for about 8 months. The wilson disease association wda is a volunteer organization striving to promote the well being of patients with wilson disease and their families and friends. Abstract wilsons disease wd or hepatolenticular degeneration is a rare, genetic and systemic disease, caused by a deficit in the metabolism of copper, leading to its accumulation in different organs, mainly the liver, followed by the central nervous system, especially the basal ganglia. Our results suggest that longterm treatment of patients with wilson disease with dpenicillamine can relieve symptoms and improve prognosis. A persons chances of having wilson disease increase if one or both parents have it.
Wilsons disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Life long treatment is needed to control wilsons disease. We are dedicated to education, advancing treatments, and finding a cure for wilson disease. The wda provides a caring community that will offer each wilson disease family information, guidance and emotional support. Wilsons disease may be difficult for doctors to initially diagnose. 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. Neurological or psychiatric symptoms liver disease unexplained liver disease elevated ast, alt normal cp and serum cu normal 24hour urine cu normal liver function tests kf ring absent age. The symptoms of wilson disease or hepatolenticular degeneration can be observed beginning at the age of 12 till the age of 25. Most people with wilson disease have no known family history of the disease. Wilsons disease wd is characterised by a deleterious accumulation of copper in the liver and brain. Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Wilsons disease causes, symptoms and treatment patient. Genetic testing also has a role in the diagnosis of wilson disease, but because of the large number of mutations seen in wilson disease, it is generally reserved for those in whom a diagnosis cannot be established in other ways, or to screen family members when the mutation in atp7b in the proband is known. Complications of the disease can include liver failure, kidney problems, and sometimes serious neuropsychiatric symptoms.
Copper is an essential mineral that is absorbed into the body through the diet. Patients presenting with liver disease may subsequently develop neurologic or psychiatric symptoms. All siblings and firstdegree relatives of affected patients neurological or psychiatric symptoms liver disease unexplained liver disease elevated ast, alt normal cp and serum cu normal 24hour urine cu normal liver function tests kf ring absent age. Some of the main features include intellectual disability, distinctive facial features, delayed development, and hirschsprung disease. Wilson disease or hepatolenticular degeneration is a rare genetic pathological condition in which there is accumulation of excessive copper in the liver, brain and other important organs of the body. Wilson disease in children and adolescents archives of. Wilson disease carriers, who have only one copy of the abnormal gene, do not have symptoms. Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. The excess copper can build up in the liver andor brain. Brainrelated symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety and seeing or. Hi, my best friend was recently diagnosed with wilsons disease.
Wilson disease wd is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. Wilson s disease wd is characterised by a deleterious accumulation of copper in the liver and brain. Wilson disease symptoms, diagnosis and treatment bmj best. Characterization of the most frequent atp7b mutation. Behavioral changes that come on gradually can be especially hard to link to wilsons. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. Classification and differential diagnosis of wilsons disease. It is one of those rare genetic disorders that benefits from effective and lifelong. If only one faulty gene is inherited, the child is a carrier but wont develop any symptoms. Wilson disease wd is a neurodegenerative disorder, which presents as a spectrum of neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia, together with a combination of neurologic symptoms that can easily lead to misdiagnosis. The following key words, wd, symptoms, diagnosis, liver, ceruloplas min, copper, treatment, penicillamine, zinc, trientine, and children, were used to identify.
1216 1235 1277 882 1546 887 1064 319 1526 1482 1349 240 741 1200 1405 50 1400 240 4 954 603 1491 798 821 1134 1079 816 1278 628 1225 879 705 402 818