Materiały źródłowe

• #1 Wilson’s disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251

  Wilson’s disease is present at birth, but symptoms don’t appear until copper levels build up in the brain, liver, eyes or another organ. Symptoms vary based on the parts of your body the disease affects. […] These symptoms can include: Tiredness and loss of appetite. A yellowing of the skin and the whites of the eye, known as jaundice. Golden-brown or copper-colored rings around the irises of the eyes, known as Kayser-Fleischer rings. Fluid buildup in the legs or stomach area. Problems with speech, swallowing or physical coordination. Depression, mood changes and personality changes. Having a hard time falling asleep and staying asleep. Uncontrolled movements or muscle stiffness. […] If Wilson’s disease isn’t treated, sometimes it can lead to death. Serious complications include: Scarring of the liver, also known as cirrhosis. As liver cells try to repair damage due to high copper levels, scar tissue forms in the liver. This makes it harder for the liver to work. Liver failure. This can occur suddenly what’s known as acute liver failure or decompensated Wilson’s disease. It also can come about slowly over years. A liver transplant might be a treatment option. Lasting nervous system issues. Tremors, involuntary muscle movements, clumsy walking and having a hard time speaking usually improve with treatment for Wilson’s disease. But some people have lasting nervous system problems, even with treatment. Kidney problems. Wilson’s disease can damage the kidneys, leading to issues such as kidney stones and an unusual number of amino acids removed in the urine. Mental health issues. These might include personality changes, depression, irritability, bipolar disorder or psychosis. Blood problems. These might include the destruction of red blood cells what’s known as hemolysis. This leads to anemia and jaundice.

• #2 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  Wilson disease primarily presents with hepatic and neuropsychiatric symptoms, including jaundice, liver failure, tremors, mood changes, and movement disorders. […] Overt symptoms are primarily related to the nervous and hepatic systems. Liver-related symptoms include jaundice and pruritus, as well as nonspecific nausea, vomiting, and lower extremity edema. […] Extrapyramidal symptoms include neuropsychiatric symptoms, including tremors, hypophonia, dysarthria, mood or personality changes, anxiety, and auditory or visual hallucinations. Most individuals with Wilson disease present with liver-related symptoms in the first decade of life and neuropsychiatric symptoms within the third or fourth decades of life. […] If untreated, Wilson disease can be fatal, particularly due to acute liver failure.

• #2 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  Given the predilection for excess copper accumulation and oxidative damage to the basal ganglia, including the putamen and globus pallidus, which are involved in the coordination of movement and neurocognitive processes, patients may report symptoms, eg, weakness, personality changes, depression, headaches, insomnia, and tremors. Approximately 30% to 50% of patients will have neuropsychiatric symptoms, including an asymmetric tremor. […] Physical examination may demonstrate hepatosplenomegaly. If the disease has progressed to cirrhosis, stigmata of chronic liver disease may be present. […] Individuals may present with acute liver failure (ALF) in a state of fulminant Wilson disease manifested by impaired synthetic dysfunction with an international normalized ratio (INR) 1.5 and acute encephalopathy in a patient without cirrhosis or preexisting liver disease.

• #2 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  Complications of Wilson disease include both hepatic and extrahepatic systems. The hepatic complications include ascites, hepatic encephalopathy, variceal bleeding, hepatorenal syndrome, hepatocellular carcinoma, ALF, and death. Extrahepatic complications are widespread and can involve the nervous, hematologic, ophthalmologic, renal, and cardiac systems. Neuropsychiatric involvement indicates a poor prognosis and may feature extrapyramidal symptoms of dysarthria, dystonia, tremors, and ataxia, as well as behavioral changes with irritability, aggression, anxiety, and personality changes.

• #3 Wilson Disease: Facts, Causes & Treatment

  https://liverfoundation.org/liver-diseases/rare-disease/wilsons-disease/

  Wilson Disease is an inherited condition that causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should. As the copper builds up in the liver, it begins to damage the organ. […] After enough damage, the liver releases the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson Disease can cause severe brain damage, liver failure, and death. […] Wilson Disease is present at birth, but the symptoms usually appear between the ages of 6 and 20 years and can begin as late as age 40. The most characteristic sign is a rusty brown ring around the cornea of the eye called the Kayser-Fleischer ring. This can be seen only through an eye exam.

• #3 Wilson Disease: Facts, Causes & Treatment

  https://liverfoundation.org/liver-diseases/rare-disease/wilsons-disease/

  Other signs can be detected only by a health care professional, such as swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles. […] If left untreated, Wilson Disease results in increasing damage to the liver and brain, and will be deadly. […] Patients with acute liver failure due to Wilson Disease should be considered for liver transplantation. Liver transplantation effectively cures this disease, with a long-term survival rate of about 80%.

• #4 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Wilson disease causes symptoms that affect your liver, brain, eyes and central nervous system. […] Symptoms of Wilson disease vary a lot from person to person. […] People who have Wilson disease typically develop symptoms between ages 5 and 40. However, some people develop symptoms at younger or older ages. […] People with Wilson disease often develop symptoms of hepatitis (inflammation of the liver) and can have an abrupt decrease in liver function (acute liver failure). These symptoms may include: Fatigue. Nausea and vomiting. Poor appetite. Pain over the liver, in the upper part of your abdomen. Dark urine color. Light color of stool. Yellow tint to the whites of your eyes and skin (jaundice). […] People with Wilson disease may develop central nervous system symptoms that affect their mental health as copper builds up in their body. These symptoms are more common in adults but do also occur in children.

• #4 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Many people with Wilson disease have green, gold or brown rings around the edge of the corneas in their eyes (Kayser-Fleischer rings). […] Wilson disease can affect other parts of your body and cause symptoms including: Hemolytic anemia. Bone and joint problems (arthritis or osteoporosis). Heart problems (cardiomyopathy). Kidney problems (renal tubular acidosis or kidney stones). […] Treatment for Wilson disease focuses on lowering toxic levels of copper in your body and preventing organ damage and the symptoms you get when your organs aren’t functioning normally. […] Treatment for Wilson disease is lifelong. The timeline for when you’ll feel better depends on the severity of your symptoms, but your symptoms could reduce significantly after four to six months of treatment followed by regular maintenance treatment. […] If you do experience symptoms, they could be life-threatening if you don’t receive treatment.

• #5 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. 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. The features of this condition include a combination of liver disease and neurological and psychiatric problems. […] Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.

• #5 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings. […] In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.

• #6 Wilson’s Disease | MedlinePlus

  https://medlineplus.gov/wilsondisease.html

  Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. […] The most characteristic sign is a rusty brown ring around the cornea of the eye. […] With early detection and proper treatment, you can enjoy good health.

• #7 Wilson’s Disease – PsychDB

  https://www.psychdb.com/cl/wilsons-disease

  Symptoms usually begin between the ages of 5 and 35 years (average age of 17). […] In untreated cases, the disease is progressive and disease can occur within 5 to 10 years (from severe brain damage, liver failure). […] The clinical spectrum of liver disease can range from being asymptomatic to acute liver failure or cirrhosis. […] Hepatic/GI symptoms include vomiting, weakness, ascites, edema, jaundice, and jaundice-associated pruritis. […] Adults may have additional neuropsychiatric symptoms which can include: Neurologic symptoms such as tremors, muscle stiffness, and aphasia. […] Psychiatric symptoms (present in about 15% of cases) such as personality changes, anxiety, hallucinations, psychosis, or depressive symptoms.

• #8 Clinical presentation, diagnosis and long‐term outcome of Wilson’s disease: a cohort study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1856673/

  Wilson’s disease is a rare inborn disease related to copper storage, leading to liver cirrhosis and neuropsychological deterioration. […] The patients with neurological symptoms were significantly older at the onset of symptoms than patients with hepatitic symptoms (20.2 v 15.5 years of age, p<0.05), and the neurological symptoms were associated with a significantly longer time from onset to diagnosis than hepatic symptoms (44.4 v 14.4 months, p<0.05). [...] Patients with Wilson's disease having predominantly neuropsychiatric symptoms manifest symptoms later, have a longer time delay from onset of symptoms until definitive diagnosis and have a poorer outcome than patients with hepatic symptoms. [...] Wilson's disease typically begins with a presymptomatic period, during which copper accumulation in the liver causes subclinical hepatitis, and progresses to liver cirrhosis and development of neuropsychiatric symptoms.

• #8 Clinical presentation, diagnosis and long‐term outcome of Wilson’s disease: a cohort study

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1856673/

  The course of neurological and hepatic symptoms while under treatment and the development of side effects were analysed by longterm followup. […] After initiation of treatment, 76.1% of patients had a stable or improved course of disease. […] The development of new symptoms while under treatment or progression of preexisting symptoms was more often recorded for neurological than for hepatic symptoms. […] Only 2 of 41 (4.9%) patients who were initially free of major hepatic symptoms developed hepatic symptoms while under longterm treatment. […] Of the 119 patients with initial hepatic symptoms, 94 (79.0%) patients improved their liver function under treatment, 10 (8.4%) maintained a stable hepatic condition and 15 (12.6%) showed decreasing liver function.

• #9 Do I Have Wilson Disease? – Wilson Disease Association

  https://wilsondisease.org/do-i-have-wilson-disease/

  The first part of the body that copper affects is the liver. In about half of Wilson disease patients the liver is the only affected organ. […] Some WD patients do not show any signs of liver disease. Neurological changes are the first sign In about forty percent of patients. […] Up to twenty percent of patients will have seen a psychiatrist before getting a diagnosis of Wilson disease. Most often, these patients will have mood issues such as depression and bipolar disorders, including anxiety, Obsessive-Compulsive Disorder (OCD), and Attention Deficit Hyperactivity Disorder (ADHD).

• #10 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. In childhood the disease normally takes a much more aggressive course than when it appears in teenagers and young adults. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. The depositing of copper causes significant damage. Wilson’s disease often leads to a reduced life expectancy. The earlier a diagnosis is reached, the better the chances to increase life expectancy and health through treatment. […] The symptoms that occur differ depending on the age at which the illness arises. In general the disease is characterised by non-specific symptoms between the ages of 5 and 30 years. Affected children often have inflammation of the liver and/or cirrhosis. In 5% of cases the liver is so severely inflamed that acute liver failure occurs.

• #11 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=134&contentid=226

  When you have Wilson disease, copper buildup begins when you are born, although it can take years or even decades for symptoms to appear. Symptoms can start at any age, but in most cases, they start between ages 5 and 35. […] The symptoms of Wilson disease vary depending on the organs that are affected. […] One common symptom associated with Wilson disease is having brown rings around the iris (colored part) of the eyes (called Kayser-Fleischer rings). […] Wilson disease may attack your brain and spinal cord (your central nervous system) and your liver. It may attack them at the same time. This can cause a group of symptoms that don’t seem to be related. […] Liver symptoms may be those of long-lasting (chronic) liver disease, such as: Extreme tiredness (fatigue), Muscle cramps, Weakness, Loss of appetite, Nausea, Vomiting, Weight loss, Fluid in your belly or legs, Yellowish skin or whites of eyes (jaundice), Easy bruising, Swollen liver and spleen.

• #11 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=134&contentid=226

  Copper buildup in the central nervous system can cause symptoms, such as: Changes in behavior, Stiff muscles, Tremors, shakes, or movements you can’t control, Slow or repeated movements, Weak muscles, Trouble swallowing, Slurred speech, Poor coordination, Drooling, Decreased fine motor abilities. […] When copper builds up in the central nervous system, it can also cause psychological changes, such as: Feeling stressed and anxious, Being depressed, Losing touch with reality (psychosis), Thinking about suicide. […] Wilson disease can also cause other symptoms, such as: Weak, fragile bones (osteoporosis), Pain and swelling in joints (arthritis), Not having enough healthy red blood cells (anemia), Lower than normal levels of platelets or white blood cells. […] The symptoms of Wilson disease may look like other health problems. Always see your healthcare provider for a diagnosis. […] Nervous system symptoms can make it difficult for you to function normally. Brain damage is also possible. […] Wilson disease can be fatal.

• #12 Wilson Disease

  https://healthlibrary.uwmedicine.org/Library/DiseasesConditions/Adult/Liver/134,226

  When you have Wilson disease, copper buildup begins when you are born, although it can take years or even decades for symptoms to appear. Symptoms can start at any age, but in most cases, they start between ages 5 and 35. […] The symptoms of Wilson disease vary depending on the organs that are affected. […] One common symptom associated with Wilson disease is having brown rings around the iris (colored part) of the eyes (called Kayser-Fleischer rings). […] Wilson disease may attack your brain and spinal cord (your central nervous system) and your liver. It may attack them at the same time. This can cause a group of symptoms that don’t seem to be related. […] Liver symptoms may be those of long-lasting (chronic) liver disease, such as: Extreme tiredness (fatigue), Muscle cramps, Weakness, Loss of appetite, Nausea, Vomiting, Weight loss, Fluid in your belly or legs, Yellowish skin or whites of eyes (jaundice), Easy bruising, Swollen liver and spleen.

• #12 Wilson Disease

  https://healthlibrary.uwmedicine.org/Library/DiseasesConditions/Adult/Liver/134,226

  Wilson disease can lead to many liver-related problems, including: Liver damage, Redness or swelling (inflammation) of the liver, called hepatitis, Chronic liver damage (cirrhosis) causing scarring and liver failure, Liver failure. […] Nervous system symptoms can make it difficult for you to function normally. Brain damage is also possible. […] Wilson disease can be fatal.

• #12 Wilson Disease

  https://healthlibrary.uwmedicine.org/Library/DiseasesConditions/Adult/Liver/134,226

  Copper buildup in the central nervous system can cause symptoms, such as: Changes in behavior, Stiff muscles, Tremors, shakes, or movements you can’t control, Slow or repeated movements, Weak muscles, Trouble swallowing, Slurred speech, Poor coordination, Drooling, Decreased fine motor abilities. […] When copper builds up in the central nervous system, it can also cause psychological changes, such as: Feeling stressed and anxious, Being depressed, Losing touch with reality (psychosis), Thinking about suicide. […] Wilson disease can also cause other symptoms, such as: Weak, fragile bones (osteoporosis), Pain and swelling in joints (arthritis), Not having enough healthy red blood cells (anemia), Lower than normal levels of platelets or white blood cells. […] The symptoms of Wilson disease may look like other health problems. Always see your healthcare provider for a diagnosis.

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• #14 Wilson’s disease – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/wilsons-disease/

  Copper levels build up from birth, but this usually happens very slowly. It can take years or even decades before any symptoms develop. […] Symptoms of Wilsons disease usually appear between the ages of 6 and 40, most commonly in peoples late teens. […] Because symptoms take years to develop, there can already be serious damage so its important to tell a doctor immediately if you develop any of the symptoms below. […] Liver symptoms often mean you have liver damage or even liver failure. They include: yellowing of the skin and whites of the eyes (jaundice), this can be hard to notice if you have black or brown skin; pain in the tummy (abdomen); swelling or bloating of your tummy (ascites); vomiting blood from bleeding veins (varices) in your food pipe. […] If copper has started to build up elsewhere in your body it can cause a range of different types of symptoms.

• #15 Wilson’s Disease: Risk Factors, Causes, & Symptoms

  https://www.healthline.com/health/wilsons-disease

  The signs and symptoms of Wilsons disease vary widely, depending on which organ is affected. […] The following symptoms may indicate copper accumulation in the liver: weakness, feeling tired, weight loss, nausea, vomiting, loss of appetite, itching, jaundice, or yellowing of the skin, edema, or the swelling of legs and abdomen, pain or bloating in the abdomen, spider angiomas, or visible branch-like blood vessels on the skin, muscle cramps. […] Copper accumulation in the brain can cause symptoms such as: memory, speech, or vision impairment, abnormal walking, migraines, drooling, insomnia, clumsiness with hands, personality changes, changes in mood, depression, problems in school. […] In the advanced stages, these symptoms may include muscle spasms, seizures, and muscle pain during movement.

• #15 Wilson’s Disease: Risk Factors, Causes, & Symptoms

  https://www.healthline.com/health/wilsons-disease

  The buildup of copper in other organs can cause: bluish discoloration in the nails, kidney stones, premature osteoporosis, or lack of bone density, arthritis, menstrual irregularities, low blood pressure. […] The earlier you find out if you have the gene for Wilsons disease, the better your prognosis is. Wilsons disease can develop into liver failure and brain damage if left untreated. […] Early treatment can help reverse neurological issues and liver damage. Treatment in a later stage may prevent further progress of the disease, but it wont always restore the damage. People in the advanced stages may have to learn how to manage their symptoms over the course of their life.

• #16 Wilson Disease | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/wilson-disease/

  Children can begin showing signs as early as 5 years old but oftentimes, they do not show signs until they reach adolescence or even adulthood. The symptoms are related to copper deposits that have built up in various places in the body. […] Sign and symptoms due to copper deposits in the liver include: Jaundice (yellow skin), Icterus (yellow eyes), Easy bleeding and bruising, Ascites (fluid in the belly), Abdominal pain, Nausea and vomiting, Weight loss. […] Sign and symptoms due to copper deposits in the brain include: Tremors, Changes in gait (the way the child walks), Changes in handwriting, Changes in behavior or school performance, Changes in mental state. […] Some children can also have kidney, heart, blood or bone abnormalities that lead to the diagnosis of Wilson disease.

• #17 Understanding Wilson’s Disease – Treated at GI AssociatesAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://giassoc.org/conditions/wilsons-disease/

  Symptoms depend on age and how much copper has built up. […] With liver disease, symptoms can include: Fatigue, Lack of appetite, Abdominal pain, Itching, Joint pain, Yellowing of the skin or eyes, Dark urine and pale stool, Skin rashes, Nausea, Vomiting. […] With copper build up in the brain, symptoms can include: Tremor, Rigidity, Trouble walking, Slurring when talking, Smiling at inappropriate times, Drooling, Personality changes.

• #18 Wilson’s Disease: Causes, Symptoms and Treatment

  https://patient.info/digestive-health/abnormal-liver-function-tests-leaflet/wilsons-disease

  Wilson’s disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. […] Symptoms typically start to develop between the ages of 6 and 20, most commonly in the teenage years, but some people don’t start to develop symptoms until middle age. […] Symptoms of liver problems often develop first. The toxic effect on the liver cells can cause inflammation of the liver (hepatitis) which may cause: Yellowing of the skin or the whites of the eyes (jaundice). Tummy (abdominal) pain. Episodes of being sick (vomiting). If left untreated, damage to liver cells causes scarring of the liver (cirrhosis). Eventually, severe cirrhosis and liver failure develop in untreated cases, causing severe problems.

• #19 Wilson Disease Clinical Presentation: History, Physical Examination

  https://emedicine.medscape.com/article/183456-clinical

  Wilson disease has a range of clinical manifestations, from an asymptomatic state to fulminant hepatic failure, chronic liver disease with or without cirrhosis, neurologic, and psychiatric manifestations. […] The condition may also manifest as acute hepatitis. Hepatic dysfunction is the presenting feature in more than half of patients. The three major patterns of hepatic involvement are as follows: (1) chronic active hepatitis, (2) cirrhosis, and (3) fulminant hepatic failure. The most common initial presentation is cirrhosis. […] An estimated 30-50% of patients with Wilson disease have neurologic or psychiatric symptoms, which generally occur at age 20-40 years. […] Most patients who present with neuropsychiatric manifestations have cirrhosis. The most common presenting neurologic feature is asymmetrical tremor, occurring in approximately half of individuals with Wilson disease. The character of the tremor is variable and may be predominantly resting, postural, or kinetic. Dystonia, parkinsonism, ataxia may also be present and are often associated with dysphagia, dysarthria, and drooling. […] Frequent early symptoms include difficulty speaking, excessive salivation, ataxia, masklike facies, clumsiness with the hands, and personality changes.

• #19 Wilson Disease Clinical Presentation: History, Physical Examination

  https://emedicine.medscape.com/article/183456-clinical

  Late manifestations (now rare because of earlier diagnosis and treatment) include dystonia, spasticity, grand mal seizures, rigidity, and flexion contractures. […] Psychiatric features include emotional lability, impulsiveness, disinhibition, and self-injurious behavior. The reported percentage of patients with psychiatric symptoms as the presenting clinical feature is 10%-20%. […] Skeletal involvement is a common feature of Wilson disease, with more than half of patients exhibiting osteopenia on conventional radiologic examination. […] The arthropathy of Wilson disease is a degenerative process that resembles premature osteoarthritis. Symptomatic joint disease, which occurs in 20%-50% of patients, usually arises late in the course of the disease, frequently after age 20 years. […] Hemolytic anemia is a recognized, but rare (10%-15%), complication of the disease. […] Clinically, patients may resemble those with Fanconi syndrome, demonstrating defective renal acidification and excess renal losses of amino acids, glucose, fructose, galactose, pentose, uric acid, phosphate, and calcium. The frequency of renal manifestations is variable.

• #20 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Hepatic dysfunction is the presenting feature in more than half of patients. Although the condition may manifest as acute hepatitis, the three major patterns of hepatic involvement are as follows: […] Cirrhosis (the most common initial presentation) […] Signs of fulminant hepatic failure include the following: […] Most patients who present with neuropsychiatric manifestations have cirrhosis. The most common presenting neurologic feature is asymmetric tremor, which is variable in character and may be predominantly resting, postural, or kinetic. […] Frequent early symptoms include the following: […] Late manifestations (now rare because of earlier diagnosis and treatment) include the following: […] Psychiatric features (10%-20% of patients) include the following: […] The arthropathy of Wilson disease is a degenerative process that resembles premature osteoarthritis. Symptomatic joint disease usually arises late in the course of the disease, frequently after age 20 years.

• #20 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Coombs-negative acute intravascular hemolysis (10%-15%) […] The color may range from greenish gold to brown. […] Observed in up to 90% of individuals with symptomatic Wilson disease and almost invariably present in those with neurologic manifestations. […] The major complications in patients with untreated Wilson disease are those associated with acute liver failure, chronic hepatic dysfunction with either portal hypertension or hepatocellular carcinoma, and the sometimes-relentless course to cirrhosis, which is characterized by a progressive lassitude, fatigue, anorexia, jaundice, spider angiomas, splenomegaly, and ascites. […] Most patients who present with neuropsychiatric manifestations have cirrhosis. The reported percentage of patients with psychiatric symptoms as the presenting clinical feature is 10%-20%.

• #21 Wilson Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/wilson-disease

  For some individuals with Wilson disease, the onset of symptoms of liver disease may be sudden and are often associated with anemia, a breakdown of red blood cells and mental confusion. […] In rare cases, Wilson disease presents with brain-related or neurological symptoms such as tremors, difficulty speaking, difficulty swallowing, involuntary movements, lack of coordination, spasticity and muscle rigidity. […] Wilson disease can cause irreversible neurological dysfunction and significant liver disease. […] Lifelong treatment for Wilson disease is necessary to lower copper in the body to nontoxic levels, prevent disease progression, and reverse any damage caused by copper accumulation in the body. […] Patients with mild to moderate liver disease may be effectively treated with a chelation drug and may be maintained on zinc and a low copper diet. […] Patients with severe liver failure may require a liver transplant.

• #22 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is a genetic disorder characterized by the excess build-up of copper in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis. […] Symptoms usually begin between the ages of 5 and 35 years. […] About half of the people with Wilson’s disease have neurological or psychiatric symptoms. Most initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Specific neurological symptoms usually then follow, often in the form of parkinsonism with or without a typical hand tremor, masked facial expressions, slurred speech, ataxia, or dystonia.

• #23 Wilson’s Disease | Causes, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/w/wilsons-disease

  Symptoms most often appear between the ages of 6 and 20 years, but can begin later in life. One sign of Wilson’s disease is the Kayser-Fleischer ring. This is a rusty brown ring around the outer part of the eye that can be seen only through an eye exam. […] Symptoms depend on how quickly the disease progresses and where the damage occurs — in the liver, blood, central nervous system, urinary system or musculoskeletal system. The signs of Wilson’s disease can be mild and may come and go over months or years, or they may be ongoing. […] Half of all patients have their first symptoms due to deposits of copper in the brain and nervous system. These symptoms include: Speech and language problems, Tremors, or shaking in the arms and hands, Tightening of the muscles, Drooling, Problems swallowing, talking, writing and balancing, Headache, Changes in behavior. […] Some children may have a „sudden onset” of Wilson’s disease and become ill suddenly with jaundice, fluid in the belly (ascites), swelling of the brain, and anemia. This sometimes leads to acute liver failure (when many of the cells in the liver die or become very damaged in a short period of time).

• #24 Wilson disease: Clinical manifestations, diagnosis, and natural history – UpToDate

  https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history/print

  Most patients with chronic liver disease have low serum ceruloplasmin, but only 50 percent have Kayser-Fleischer (KF) rings. […] Neurologic manifestations of Wilson disease vary widely. Nearly all patients with Wilson disease with neurologic manifestations have KF rings. Neurologic symptoms may be subtle or may be rapidly progressive, leading to severe disability over the course of months. […] Most patients with neurologic involvement have at least one of the following features: dysarthria, cerebellar ataxia/abnormal gait, dystonia, tremor, and parkinsonism. […] Among untreated patients with neurologic involvement, the neurologic symptoms may progress until the patient becomes severely dystonic, akinetic, and mute. Progression is usually gradual, but sudden deterioration may also occur.

• #24 Wilson disease: Clinical manifestations, diagnosis, and natural history – UpToDate

  https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history/print

  Regardless of whether clinical manifestations are initially present, patients often develop manifestations of organ-specific involvement as the disease progresses (eg, patients who present with liver disease may subsequently develop neurologic or psychiatric symptoms). Conversely, liver failure may develop in patients who presented initially with neurologic or psychiatric symptoms. […] Most patients with Wilson disease develop symptoms between the ages of 3 and 55 years, although the disorder has been diagnosed in patients under the age of three years and in patients in their eighth decade. […] In most patients, liver disease progresses silently, often until adolescence and beyond, when acute liver failure or complications of cirrhosis may develop. In some patients, neurologic or psychiatric manifestations precede overt liver disease.

• #24 Wilson disease: Clinical manifestations, diagnosis, and natural history – UpToDate

  https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history/print

  For patients who achieve copper detoxification before developing cirrhosis and who maintain normal copper balance, overall survival is not significantly different compared with the general population. […] Although life expectancy for untreated patients with Wilson disease is uncertain, lack of pharmacologic therapy and/or liver transplantation typically results in progressive symptoms, liver failure with complications of portal hypertension, and death.

• #25 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  The most important challenge is to recognise atypical or rare symptoms of WD that will lead diagnosis. […] A large variability in the age of onset and in the clinical presentation of WD exists and reflect our limited knowledge on the natural history of WD. […] Hepatic symptoms are the most common onset presentation in children with a mean age of 11 years, but some examples of liver disease due to WD in very young patients exist and include three young children aged 8, 9 and 13 months who were evaluated for transaminitis. […] The two most frequent extrahepatic presentations are the KFR and the cerebral involvement. They may be the only manifestations of the disease. […] Dysarthria is the most frequent neurologic feature reported in large cohorts and is followed by dystonia, tremor, abnormal gait, parkinsonism and chorea.

• #25 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  All textbooks and courses on WD emphasize the classic psychiatric presentations of the disease and every physician has learned that WD should be suspected in any young patient with psychiatric features. […] Sleep disorders confirmed by sleep recordings are other common features of WD, combining insomnia, daytime sleepiness, restless legs syndrome, cataplexy-like episodes, and REM sleep behaviour disorder, some of which being the first presenting symptom of WD. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. […] Renal impairment is often missed because of its subtle manifestations that include proteinuria, glucosuria, phosphaturia, uricosuria, generalized aminoaciduria, microscopic haematuria and decreased glomerular filtration rate.

• #25 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  The endocrine manifestations of WD classically include disorders of growth, hypothyroidism, hypoparathyroidism, hypoglycaemia, galactorrhoea, abnormal menstruation and infertility. […] In some cases, the disease may only begin by isolated blood count anomalies like thrombocytopenia or hemolytic anemia. […] Misdiagnosis of WD may be due to inadequate interpretation of copper balance. […] The classical lesions present in patients with neurological WD are symmetrical and localized in the basal ganglia and the brainstem in association with cerebral atrophy.

• #26

  http://www.eurowilson.org/en/living/guide/symptoms/index.phtml

  In some cases these can be very mild, everyday symptoms such as tiredness, loss of appetite, abdominal pain, vomiting, weight loss, nose bleeds and anaemia. […] Some patients also experience kidney problems, i.e. tubular dysfunction, which generally causes no symptoms, and joint problems, which are very rare. […] In other cases the symptoms may be more acute, especially when the liver is involved. […] Liver disease can be broadly subdivided into: acute liver disease due to copper overload. In this case the patient is likely to be severely ill and yellow. […] Some of the kinds of neurological problems can include: deterioration in school performance or handwriting, mild tremors, dystonia: this is a type of cramping or stiffening of the muscles. […] About one third of patients initially present with psychiatric abnormalities, including depression, personality and mood changes.

• #27 Wilson Disease

  https://www.brainfacts.org/diseases-and-disorders/neurological-disorders-az/diseases-a-to-z-from-ninds/wilson-disease

  Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the liver, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. The most characteristic sign of WD is the Kayser-Fleisher ring a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologists slit lamp. The primary consequence for most individuals with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. […] In others, the first symptoms are neurological, occur later in adulthood, and commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. One-third of individuals with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. […] If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.

• #28 Wilson disease – UF Health

  https://ufhealth.org/conditions-and-treatments/wilson-disease

  Wilson disease symptoms typically appears in people under 40 years old. In children, the symptoms begin to show by age 4. […] Symptoms may include: Abnormal posture of arms and legs, Arthritis, Confusion or delirium, Dementia, Difficulty moving arms and legs, stiffness, Difficulty walking (ataxia), Emotional or behavioral changes, Enlargement of the abdomen due to accumulation of fluid (ascites), Personality changes, Phobias, 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). […] 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. […] 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.

• #29 Wilson (Wilson’s) Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease

  Some patients have either liver or neurologic involvement only, but many have both. […] May present as acute liver failure, abnormal liver enzymes, or cirrhosis. […] Changes in speech […] Abnormal body postures […] Rigidity […] Walking abnormalities […] Tremor […] Facial expression changes […] Drooling […] Weakness […] Difficulties with schoolwork or job performance […] Personality changes.

• #30 Wilson’s Disease – Zero To Finals

  https://zerotofinals.com/medicine/gastroenterology/wilsons/

  Wilson’s disease typically presents in teenagers or young adults. It is rare for symptoms to start after age 40. The presenting features vary significantly between individuals. Liver problems usually arise first. Rarely it can present initially with neurological or psychiatric problems, although these typically occur with more advanced disease. […] Copper deposition in the liver leads to chronic hepatitis, eventually leading to cirrhosis. Copper deposition in the central nervous system can lead to neurological and psychiatric problems. […] Neurological symptoms can include tremor, dysarthria (speech difficulties) and dystonia (abnormal muscle tone). Copper deposition in the basal ganglia causes Parkinsonism (tremor, bradykinesia and rigidity). […] Psychiatric symptoms can include abnormal behaviour, depression, cognitive impairment and psychosis.

• #31 Wilson disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/wilson-disease

  Wilson disease symptoms typically appear in people under 40 years old. Damage to the liver may begin in children by age 6, but clinical symptoms most often appear in people in their teens or early twenties. […] Symptoms may include: Abnormal posture of arms and legs, Arthritis, Confusion or delirium, Dementia, Difficulty moving arms and legs, stiffness, Difficulty walking (ataxia), Emotional or behavioral changes, Enlargement of the abdomen due to accumulation of fluid (ascites), Personality changes, Phobias, 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). […] Lifelong treatment is needed to control Wilson disease. The disease may cause fatal effects, such as loss of liver function. Copper can have toxic effects on the nervous system. In cases where the disease is not fatal, symptoms may be disabling. […] 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.

• #32 Wilson Disease – Seattle Children’s

  https://www.seattlechildrens.org/conditions/wilson-disease/

  In children born with Wilson disease, extra copper starts building up in the liver at birth. But signs do not show up until later in childhood. By then, the disease might have already caused serious and long-lasting damage to your child’s liver and nervous system. […] Symptoms depend on which organs are affected. Your child may have signs of liver disease like: Yellowing of the skin or eyes (jaundice), Easy bruising or bleeding, Swelling of the legs, ankles or belly, Lack of energy, Weight loss. […] Nervous system symptoms are rare in children before the age of 10 years. Teens and adults may have symptoms such as: Loss of coordination, Stiffness, Tremors or changes in handwriting, Changes in personality, sleep or behavior, Anxiety or depression, Impaired thinking.

• #33 Wilson Disease – Nutritional Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/nutritional-disorders/mineral-deficiency-and-toxicity/wilson-disease

  Symptoms of Wilson disease usually develop between ages 5 and 35 but can develop from age 2 to 72 years. […] In almost half of patients, particularly adolescents, the first symptom is hepatitis acute, chronic active, or fulminant. […] In about 40% of patients, particularly young adults, the first symptoms reflect central nervous system (CNS) involvement. Motor deficits are common, including any combination of tremors, dystonia, dysarthria, dysphagia, chorea, drooling, and incoordination. Sometimes the CNS symptoms are cognitive or psychiatric abnormalities. […] In 5 to 10% of patients, the first symptom is incidentally noted gold or greenish gold Kayser-Fleischer rings or crescents (due to copper deposits in the cornea), amenorrhea or repeated miscarriages, or hematuria. […] Prognosis for patients with Wilson disease is usually good, unless disease is advanced before treatment begins. […] Untreated Wilson disease is fatal, usually by age 30.

• #34 Wilson Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/wilson-disease

  Symptoms include Jaundice, fatigue, loss of appetite, abdominal swelling, and tremors […] Patients may experience abnormal tests, liver failure, or severe neurologic or psychiatric disorders. […] The disease first attacks the liver and then the central nervous systembut both may be affected simultaneously, causing liver, neurological, and psychiatric problems. A rusty brown halo around the eyes cornea known as a Kayser Fleischer ring is a common sign of the disease but may not be present early on. […] Signs and symptoms of liver disease include: Yellowing of the skin or whites of the eyes (jaundice), Fatigue, Loss of appetite, Abdominal swelling. […] Nervous system and psychiatric signs and symptoms can include: Tremors, Difficulty walking, Loss of coordination, Speech problems, Impaired thinking, Depression, anxiety and mood swings.

• #35 Wilson Disease Symptoms | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/neurosciences/movement-disorders/wilson-disease/symptoms

  Wilson disease causes copper buildup at birth. It can take years or even decades for symptoms to appear. Symptoms can start at any age but in most cases they start between ages 5 and 35. […] Wilson disease may lead to damage in the brain and spinal cord (central nervous system) and liver. […] Symptoms of Wilson disease vary depending on the organs affected. The symptoms may look like those of other health problems. See your primary care physician if you have any, or several, of these symptoms. […] Copper buildup in the central nervous system can cause symptoms such as: Behavioral changes, Stiff muscles, Uncontrollable tremors, shakes or movements, Slow or repeated movements, Trouble swallowing, Slurred speech, Poor coordination, Drooling, Decreased fine motor abilities. […] Copper buildup in the central nervous system can also cause psychological changes such as: Feeling stressed and anxious, Depression, Suicidal thoughts.

• #36 New Wilson’s Disease treatments 2025 | Everyone.org

  https://everyone.org/explore/treatment/?id=60

  Neurological symptoms typically appear later in the disease progression and may initially be subtle, becoming more severe over time. Common neurological symptoms include tremors, dystonia, difficulty speaking, difficulty swallowing, ataxia, rigidity and muscle stiffness, and movement disorders. […] Wilson’s disease can also affect mental health and cognitive function, with psychiatric symptoms often appearing concurrently or shortly after neurological symptoms. Common psychiatric and cognitive symptoms include depression, anxiety, mood swings and irritability, personality changes, cognitive impairment, and psychosis. […] Eye symptoms are characteristic of Wilson’s disease and often serve as a diagnostic clue. The most notable ocular symptom is Kayser-Fleischer rings, which are copper deposits forming a golden-brown or greenish ring around the cornea.

• #37 Wilson disease — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/wilson-disease/

  Wilson disease is a rare genetic disorder of copper metabolism, leading to excessive copper accumulation. Affected individuals can present with liver dysfunction, movement disorder and/or neuropsychiatric symptoms. The condition is treatable. Delays in diagnosis can lead to irreversible disability or death. […] Patients typically present before the age of 40 with either hepatic (younger) or neurological (older) presentation. Children can present with behavioural changes. Hepatic presentation ranges from abnormal liver tests to acute liver failure. Diagnosis can be challenging, but timely treatment is important to remove excess copper, improve symptoms and avoid life-threatening complications. […] Clinical features of Wilson disease are listed below. Hepatic: abnormal liver function; jaundice; hepatic steatosis on imaging; cirrhosis; and/or acute liver failure. Neurological: dysarthria; postural tremor; movement disorders (dystonia and/or chorea); parkinsonism; dysphagia; seizures; sleep disorders; and/or facial muscle spasm (risus sardonicus). Psychiatric: depression and anxiety as both a symptom and response to living with a chronic disease; impairment of executive function, memory and cognition, which may be progressive; behavioural changes, including irritability or aggression; and/or psychosis (with paranoid delusions) in combination with symptoms listed above.

• #37 Wilson disease — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/wilson-disease/

  Diagnosis of Wilson disease is diagnosed by specialist interpretation of clinical tests in the correct clinical context. Testing for the disease should be considered in: children and adults presenting with liver disease; children and adults between 5 and 50 years old presenting with progressive movement disorder; and children and adults with unexplained Coombs-negative haemolytic anaemia. […] Management of Wilson disease depends on the urgency, severity and phenotype of presentation: acute liver failure is a medical emergency and urgent referral to liver transplant centre is indicated; additionally, neurological symptoms can worsen during initial chelation therapy and so chelation therapy needs to be carefully titrated, starting at a low dose. Longer-term management includes: monitoring urinary copper levels, screening for secondary complications such as hepatocellular carcinoma in individuals with cirrhosis, and treatment of neurological and psychiatric symptoms requiring multidisciplinary working.

• #38 Wilson’s Disease – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/wilsons-disease/

  Mental health problems may occur after the copper has built up in the CNS. Not everyone has mental health problems. Signs and symptoms vary greatly and may include: Depression, Anxiety, Mood swings, Changes in personality, Changes in behaviour, Hallucinations and losing contact with reality (psychosis). […] Other signs and symptoms vary, they may include: Arthritis which may occur at a young age, Low bone density causing them to become brittle and prone to fractures and breaking, Bony growths on the large joints (osteophytes), Menstrual problems, Miscarriages and/or infertility, Kidney stones and/or other kidney problems, Low levels of red or white blood cells and/or low platelets in the blood, High levels of amino acids, protein, uric acid, and carbohydrates in the urine. […] Kayser-Fleischer rings are a unique sign of Wilson’s Disease. They are described as a rusty coloured brown ring which can be seen around the edge of the coloured part of the eye. Usually these are not visible to the naked eye and will only be seen during an eye examination. If you have CNS related symptoms you are likely to have these rings. However, they are only seen in around 50% of people who just have symptoms of liver damage.

• #39 Wilson’s disease – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/427?locale=tr

  Wilson’s disease is a systemic disease that can often mimic other conditions, commonly leading to delayed diagnosis or misdiagnosis. It should be considered in patients with abnormal liver enzymes, liver disease, neurological conditions, or psychiatric disorders. […] Wilson’s disease can present as liver disease, a progressive neurological disorder, a psychiatric illness, or a combination of all of these. […] Key diagnostic factors include elevated serum aminotransferases, history of hepatitis, acute liver failure, behavioural abnormalities, presence of Kayser-Fleischer rings, tremor, dysarthria, dystonia, incoordination, and sloppy or small handwriting. […] Other diagnostic factors include cognitive impairment, depression, personality change, dysdiadochokinesis, abnormal extra-ocular movements, normal sensation, muscular strength, and reflexes, history of gastrointestinal bleeding, jaundice, liver tenderness, spider angiomata, gynaecomastia, ascites, peripheral oedema, bruising, encephalopathy, and dysphagia.

• #40 WDSG-UK :: What you should know about Wilson’s disease

  https://www.wilsonsdisease.org.uk/Site/Pages/what_is_wilsons_disease

  Wilson’s disease is a rare genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. […] Copper begins to accumulate immediately after birth and gradually builds up to toxic levels within the body. Excess copper attacks the liver and brain resulting in liver disease, psychiatric, or neurological symptoms or any combination of these. […] The symptoms usually appear during adolescence, but symptoms have presented as early as 5 years and as late as 50 years. Patients may present with a wide spectrum of symptoms. […] Patients may have jaundice, abdominal swelling, vomiting of blood (a telltale sign of oesophageal varices caused by liver damage) and abdominal pain. They may have tremors or chorea (coordination difficulties such as with handwriting), gait disturbances, balance disorders, stiffness or rigidity (dystonia), difficulty walking, talking (slurring) and swallowing, and may drool. They may develop all degrees of mental illness including homicidal or suicidal behaviour, depression and aggression. Women may have menstrual irregularities, absent periods, infertility or multiple miscarriages. No matter how the disease begins, it is always fatal, if it is not correctly diagnosed and treated.

• #41 Wilson’s Disease Treatment | Symptoms and Diagnosis – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/liver-diseases-hepatology/wilsons-disease

  Extreme tiredness, Generalized weakness, Loss of appetite, Nausea / vomiting, Fluid in your belly or legs, Yellowish skin or whites of eyes (jaundice), Easy bruising, Swollen liver and spleen […] Changes in behavior, Stiff muscles, Tremors, shakes or movements you cant control, Slow or repetitive movements, Weak muscles, Trouble swallowing, Slurred speech, Poor coordination, Drooling, Decreased fine motor abilities […] Feeling stressed and anxious, Being depressed, Losing touch with reality (psychosis), Thinking about suicide […] Weak, fragile bones (osteoporosis), Pain and swelling in joints (arthritis), Low red blood cell count (anemia) […] There is no cure for Wilson disease. However, early treatment can help prevent severe health problems. Lifelong treatment is needed to reduce the amount of copper in your body.

• #42 Wilson’s disease: diagnosis and management – The Pharmaceutical Journal

  https://pharmaceutical-journal.com/article/ld/wilsons-disease-diagnosis-and-management

  If copper deposits in the brain, it can cause various neurological signs including tremors, ataxia, dystonia, headaches and seizures. If left untreated, neurological symptoms can lead to severe muscle weakness, rigidness and dementia. […] Around 95% of patients with neurological symptoms have Kayser–Fleischer (KF) rings, dark golden or brown rings that appear to encircle the iris of the eye and are caused by copper deposition in the descemet’s membrane of the cornea. […] In addition, psychological problems — such as depression, mood swings and personality changes — are seen in some patients. […] Renal disease symptoms — such as kidney stones, premature arthritis, anaemia, heart disease, pancreatitis — and other joint and bone involvement, including osteoporosis, may be present. In female patients, menstrual problems and issues with repeated miscarriage have been reported. […] Patients who discontinue treatment are at a high risk of fulminant hepatic failure; therefore, it is recommended to continue life-long treatment. Patients with neurological features should begin to show clinical improvement six months after initiation of anti-copper therapy.

• #43 Wilson’s disease: Definition, cause, symptoms, treatment, and more

  https://www.medicalnewstoday.com/articles/wilsons-disease

  A person may also experience neurological symptoms as a result of high levels of copper in their body. Although these symptoms are more common in adults, they can also affect children. […] In approximately 40-50% of people with Wilsons disease, their first symptoms may have to do with their central nervous system. […] Symptoms include: tremors, muscle stiffness, difficulties with physical coordination, speech, and swallowing. […] A person may also experience: anxiety, psychosis, depression, changes in behavior and personality. […] A buildup of copper in the eyes can cause a ring to appear around the corneas. These rings, known as Kayser-Fleischer rings, may be green, gold, or brown. […] The Wilson Disease Association note that Kayser-Fleischer rings will affect approximately 95% of people displaying neurological symptoms and 65% of people displaying liver symptoms. […] If a person does not receive treatment, it can lead to: liver failure, severe brain damage, death.

• #44 Wilson’s Disease: Symptoms, Causes, Treatment, and Outlook

  https://www.webmd.com/a-to-z-guides/what-to-know-wilsons-disease

  Wilson’s disease can also cause mental health problems, such as psychosis, behavior disorders, anxiety, and depression. […] A prominent symptom of Wilson’s disease is „sunflower eyes” or sunflower cataracts. These appear in the eyes as a multicolored center with spokes coming out of it. […] Kayser-Fleischer rings are another sign of Wilson’s disease. These appear as golden-brown discoloration inside the eyes. The brown color is due to copper deposition in the eyes. Kayser-Fleischer rings are visible in most people with Wilson’s disease. […] Typically, you start seeing the symptoms between ages 5 and 40. Some people, though, may develop symptoms earlier or later in life. In some cases, doctors have found symptoms of the condition in babies as young as nine months and adults at age 70.

• #45 Signs & Symptoms – Wilson Disease Association

  https://wilsondisease.org/do-i-have-wilson-disease/signs-symptoms/

  Other Systems: Ocular: Kayser-Fleischer rings, sunflower cataracts […] Cutaneous: lunulae ceruleae […] Kidney: Renal abnormalities: aminoaciduria and nephrolithiasis […] Skeletal abnormalities: premature osteoporosis and arthritis […] Cardiomyopathy, dysrhythmias […] Pancreatitis […] Hypoparathyroidism […] Menstrual irregularities; infertility, repeated miscarriages.

• #46 Clinical manifestations of Wilson disease in organs other than the liver and brain

  https://atm.amegroups.org/article/view/24690/html

  Wilson disease (WD) is an inherited genetic disorder that is caused by copper metabolism disturbances with main hepatic, neurological, and psychiatric presentation. Deposits of copper accumulate in different organs and may cause a broad range of clinical manifestations. Patients with WD may present with ophthalmological symptoms, or renal, cardiac and osteoarticular involvement. The most common ophthalmological sign as a result of copper accumulation is the Kayser-Fleischer corneal ring, whereas sunflower cataracts are observed rarely. Retinal degeneration, present in WD patients, may serve as a marker of neurodegeneration. Osteoarticular involvement is quite common and includes osteopenia, osteoporosis and arthropathy, which may lead to bone fractures and joint problems mainly affecting knees and wrists. Renal disturbances include tubular dysfunction and renal calculi. A recent cardiac study has shown a higher risk of atrial fibrillation and heart failure in WD patients than in non-WD patients. Autonomic system dysfunction is also observed, but involvement is subclinical in most cases. Another manifestation of WD concerns endocrine system disturbances, which can lead to recurrent abortions, infertility, growth disruption, and parathyroid failure. However, it is possible to become pregnant for females with mild WD symptoms and for those who are compliant with therapy. Hematologic disturbances are frequent and may include acute hemolytic anemia, leucopenia, anemia and low platelet count. Other observed symptoms include lipomas and characteristic of WD skin changes like hyperpigmentation of the legs, xerosis or azure lunulae of the nails.

• #46 Clinical manifestations of Wilson disease in organs other than the liver and brain

  https://atm.amegroups.org/article/view/24690/html

  Endocrinological disturbances include recurrent abortions, infertility, growth disruption, and parathyroid failure. Gonadal dysfunction in WD patients may result from chronic liver disease. Women with symptomatic WD often have amenorrhea, which may be the first symptom before occurrence of hepatic or neurological signs. Impaired procreation capability was observed 46 WD patients, and the risk of occurrence during pregnancy was higher than in general population. In female WD patients recurrent abortions are more frequent in untreated patients. […] Hematological disturbances include acute hemolytic anemia, leucopenia, anemia, low platelet count, coagulation parameters dysfunction that result from disturbed synthesis in the liver. Acute Coombs-negative hemolytic anemia may precede other symptoms. In one study, about 7% of WD patients at admission had hemolytic anemia. In patients with severe liver failure, marked hemolysis may result from increased non-ceruloplasmin-bound copper released from impaired hepatocytes.

• #46 Clinical manifestations of Wilson disease in organs other than the liver and brain

  https://atm.amegroups.org/article/view/24690/html

  Symptoms may result from direct toxicity of copper, oxidative stress, and as a consequence of liver failure or anti-copper treatment. Some of the symptoms are mild or subclinical and are often dismissed. However, awareness of possible WD manifestations, other than hepatic or neurological features, is important for diagnosis WD patients. […] Osteoarticular disturbances are common in WD patients, and include osteopenia, osteoporosis, skeletal abnormalities, and arthropathy. Bone demineralization may lead to osteopenia and osteoporosis and in one study, osteoporosis was detected in 43% of analyzed WD patients. The prevalence of fracture was reported in 7% to 14% of WD patients. Disturbances of the skeleton, like congenital scoliosis, bone demineralization, subchondral fragmented bones and cysts, have been reported in WD. Joint disturbances may possibly be caused by copper deposition. The most commonly affected joints are knees and wrists.

• #46 Clinical manifestations of Wilson disease in organs other than the liver and brain

  https://atm.amegroups.org/article/view/24690/html

  Cardiac abnormalities like arrhythmia, cardiomyopathy, and autonomic disturbances are also observed in WD patients. However, these disturbances are rather mild. However, a recent study in a large group of WD patients revealed an increased risk of atrial fibrillation and heart failure. The risk of AF was 29% higher and the risk of HF was 55% higher than in the large group of non-WD patients after adjusting for age and risk factors. […] Renal disturbances are overlooked in many cases due to mild manifestation. Impairment of renal tubules may cause acidosis or aminoaciduria, and occurrence of urinary calculus was reported. High levels of calcium in the urine result from reabsorption impairment of the distal part of renal tubules and released calcium from bones. The consequence of hypercalciuria is urinary calculus. Renal stones were reported in about 16% of patients with WD.

• #47 Wilson Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/wilson-disease/

  Between 30% to 50% of patients may also experience symptoms related to mental health and movement, such as unsteady shaking (asymmetrical tremor), drooling, difficulty with coordination (ataxia), a mask-like expression, or clumsiness. […] During a physical exam, doctors may notice an enlarged liver or spleen, which are signs of Wilson disease. If the disease has advanced to cirrhosis, signs of long-term liver disease may be more noticeable. Eye examinations might show yellowing of the eyes (icterus) or copper-coloured rings on the cornea known as Kayser-Fleischer rings. Other signs of Wilson disease include difficulty speaking, stiffness in muscles, and a bluish color at the base of the fingernails (lunulae ceruleae). […] Bone problems are also quite common and it can look like early-onset osteoarthritis, often affecting the central skeleton and spine. Also, about 10-15% of patients experience a type of anemia due to the breakdown of red blood cells caused by high copper concentration. […] Lastly, patients may also have kidney symptoms, similar to Fanconi syndrome or formation of stones in the urinary tract (urolithiasis).

• #48 Wilson’s Disease – PsychDB

  https://www.psychdb.com/cl/wilsons-disease

  Symptoms usually begin between the ages of 5 and 35 years (average age of 17). […] In untreated cases, the disease is progressive and disease can occur within 5 to 10 years (from severe brain damage, liver failure). […] The clinical spectrum of liver disease can range from being asymptomatic to acute liver failure or cirrhosis. […] Hepatic/GI symptoms include vomiting, weakness, ascites, edema, jaundice, and jaundice-associated pruritis. […] Adults may have additional neuropsychiatric symptoms which can include: Neurologic symptoms such as tremors, muscle stiffness, and aphasia. […] Psychiatric symptoms (present in about 15% of cases) such as personality changes, anxiety, hallucinations, psychosis, or depressive symptoms.

• #49 Wilson’s Disease (Hepatolenticular Degeneration) | Liver Care | Bon Secours

  https://www.bonsecours.com/health-care-services/liver-care-hepatology/conditions/wilsons-disease

  Wilson’s disease is congenital (present at birth), though signs and symptoms do not start until the excess copper builds up in the organs. The symptoms you experience vary based on which areas of the body have been affected. […] Signs and symptoms of Wilson’s disease can include: Abdominal pain, Decreased appetite, Fatigue, Fluid buildup in the legs or abdomen, Golden-brown discoloration of the eyes known as Kayser-Fleischer rings, Jaundice (yellowing of the skin and eyes), Stiffness in the muscles, Trouble controlling movements, Trouble with speech, swallowing or coordination. […] As long as Wilson’s disease or hepatolenticular degeneration is diagnosed and treated early, most people with the condition lead fairly normal, healthy lives.

• #50 Wilson’s disease. What it is, symptoms, diagnosis and treatment. Clínica Universidad de Navarra

  https://www.cun.es/en/diseases-treatments/diseases/wilson-disease

  The most common symptoms are: Liver symptoms: liver cirrhosis, acute liver failure. Neurological symptoms: speech difficulty, ataxia, tremor, personality changes, seizures, etc. […] The prognosis of Wilson’s disease depends on the moment it is diagnosed. The earlier the treatment is introduced, the better the prognosis of the disease.

• #51 Wilson Disease – Disorders of Nutrition – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/disorders-of-nutrition/minerals/wilson-disease

  In most of the other people, the first symptoms result from liver damages due to inflammation (hepatitis) and eventually scarring (cirrhosis). […] Gold or greenish gold rings (Kayser-Fleischer rings) may appear around the irises (the colored part of the eye). These rings develop when copper accumulates. In a few people, these rings are the first sign of Wilson disease. […] People may have fatigue and weakness due to decreased numbers of red blood cells (anemia) because red blood cells rupture (causing hemolytic anemia). […] Without lifelong treatment, Wilson disease is fatal, usually by age 30. With treatment, people usually fare well unless the disease was advanced when it was diagnosed. […] People who do not take the drugs as directed, especially younger people, may develop liver failure.

• #52 Wilson Disease | Loma Linda University Health

  https://lluh.org/conditions/wilson-disease

  Early treatment can help prevent severe problems. […] Wilson disease can lead to many liver-related problems, including: Liver damage, Redness or swelling (inflammation) of the liver, called hepatitis, Chronic liver damage (cirrhosis) causing scarring and liver failure, Liver failure. […] Nervous system symptoms can make it difficult for you to function normally. Brain damage is also possible. […] Wilson disease can be fatal.

• #53 Wilson’s disease at a glance – Vivet Therapeutics

  https://www.vivet-therapeutics.com/pipeline/wilsons-disease-at-a-glance/

  Psychiatric manifestations are also very variable and nonspecific and may encompass depression, neuroses, personality changes or psychosis. An additional symptom, Kayser-Fleischer rings (brown discoloration encircling the iris), is highly evocative of Wilson disease but not always present. […] All patients diagnosed with Wilsons Disease must be treated for life to prevent the development of severe neuropsychiatric and hepatic complications.

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