Medication
Treatment of Wilson’s disease with triethylene tetramine hydrochloride (Trientine) J Pediatr Gastroenterol Nutr. 1990;10( (1)):77–81. doi: 10.1097/00005176-199001000-00015. [ PubMed] [ Google Scholar] 88. Lingam S, Wilson J, Nazer H, Mowat AP.
Procedures
Symptoms usually begin between the ages of 5 and 35 years. It was first described in 1854 by a German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson.
Nutrition
This chapter reviews the key developments in the 20th century that led to the recognition of Wilson disease as an inherited, but treatable, copper storage disorder affecting the liver, brain, and other organs. In the 1950s–1980s, the development of oral drugs that can reduce the copper load transformed the prognosis of Wilson disease.
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It is important to diagnose Wilson disease as early as possible. Permanent neurologic dysfunction and serious liver disease may be avoided with early diagnosis and treatment.
What is the treatment for Wilson’s disease?
When was Wilson syndrome first identified?
How has Wilson disease changed in the 20th century?
Why is it important to diagnose Wilson disease early?
What is the primary treatment for Wilson's disease?
Zinc acetate (Galzin). It is typically used as maintenance therapy to prevent copper from building up again after treatment with penicillamine or trientine. Zinc acetate might be used as primary therapy if you can't take penicillamine or trientine.
When was Wilson's disease first discovered?
Wilson's disease occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. It was first described in 1854 by a German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson.
What is the safest treatment for Wilson's disease?
Penicillamine link (Cupramine, Depen) and trientine (Syprine) are two chelating agents used to treat Wilson disease. These medicines remove copper from the body. Penicillamine is more likely to cause side effects than trientine.
What is the history of Wilson's disease?
The disease is named after the American-born British neurologist, Dr. Samuel Alexander Kinnier Wilson who, in 1912, composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver.
Can Wilson disease be cured?
There is no cure for Wilson disease. Lifelong treatment is needed to reduce the amount of copper in your body. Treatment may include: Taking medicines to help your body's organs and tissues get rid of extra copper (copper-chelating medicines)
How do you reduce copper in your body?
Medicines such as Cuprime and Depen (generic name: D-penicillamine) and Syprine (generic name: trientine) are used to help excrete excess copper with the urine. Zinc is also used to reduce copper absorption in the diet. Still, it is helpful to avoid copper-rich foods as much as possible.
What is the prognosis for Wilson disease?
Early onset of the disease may foretell a worse prognosis than later onset. 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.
What is the life expectancy of a person with Wilson disease?
Usually, symptoms of Wilson's disease develop between 12 and 23 years of age, and untreated people may have a life expectancy of 40 years. However, early diagnosis, followed by proper treatment, may increase the life span.
What organs does Wilson's disease affect?
Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. 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.
What mimics Wilson's disease?
Primary neurologic disorders that can mimic Wilson disease include essential tremor, young onset Parkinson's disease, focal and generalized dystonias.
What causes too much copper in your blood?
Too much copper can be toxic. You can get too much copper from dietary supplements or from drinking contaminated water. You can also get too much copper from being around fungicides that have copper sulfate. You can also have too much copper if you have a condition that stops the body from getting rid of copper.
Does Wilson's disease skip a generation?
Mutations in the gene lead to an abnormal copper transporter that cannot move copper effectively or at all. This excess copper accumulates in the liver and other organs. Most patients have no family history of Wilson disease.
How many people have Wilson's disease?
Wilson's disease occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. It was first described in 1854 by German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson.
What are the complications of Wilson's disease?
Complications of Wilson's disease can include liver failure, liver cancer and kidney problems. A liver transplant may be helpful in those in whom other treatments are not effective or if liver failure occurs. Wilson's disease occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years.
Does Wilson's disease affect ATP7B?
Both functions of ATP7B are impaired in Wilson's disease. Copper accumulates in the liver tissue; ceruloplasmin is still secreted, but in a form that lacks copper (termed apoceruloplasmin) and is rapidly degraded in the bloodstream.
Is there a test for Wilson's disease?
There is no totally reliable test for Wilson's disease, but levels of ceruloplasmin and copper in the blood, as well of the amount of copper excreted in urine during a 24-hour period, are together used to form an impression of the amount of copper in the body. The gold standard —or most ideal test—is a liver biopsy.
Who was the first person to describe the disease of the liver?
The disease bears the name of the British physician Samuel Alexander Kinnier Wilson (1878–1937), a neurologist who described the condition, including the pathological changes in the brain and liver, in 1912.
Is ceruloplasmin low in menkes disease?
Low ceruloplasmin is also found in Menkes disease and aceruloplasminemia, which are related to, but much rarer than Wilson's disease.
How many parts of treatment for Wilson disease?
Treatment may be divided into three parts: first, treatment of symptomatic patients, second, maintenance therapy after copper has been reduced in affected tissues, and third, in asymptomatic patients, maintenance therapy may be used from the beginning. Treatment for Wilson disease includes three types of medications.
What is Wilson disease?
Wilson disease is a rare genetic disorder beginning with liver dysfunction where damage begins by six years of age, but usually presents clinically in teenage years or early twenties . Common signs of associated liver disease include a yellow discoloration (jaundice) of the skin, mucous membranes and the membranes (sclera) that line the eye, ...
What is the process of finding the genes of a Wilson's disease?
Molecular genetic studies that use DNA from blood cells to search for patterns of differences or similarities, a procedure called haplotype analysis may establish whether a full sibling of an affected patient has Wilson disease, is a carrier of the Wilson disease gene, or is not a carrier.
How many people are affected by Wilson's disease?
Although estimates vary, it is believed that Wilson’s disease occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of the disease gene.
What are the symptoms of Wilson disease?
Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with ...
How is Wilson disease inherited?
Wilson disease is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual inherits one normal gene ...
Why do people with Wilson's disease have anemia?
These individuals may rapidly develop signs and symptoms of liver disease, often associated with anemia due to breakdown of red blood cells (hemolysis) and mental confusion.
What are the complications of Wilson disease?
Are there complications that can occur? Wilson disease can lead to various liver-related problems, including liver damage, hepatitis, cirrhosis, and liver failure. You could have difficulty functioning because of neurological symptoms. Brain damage is a possibility and the disease can be fatal.
Is there a cure for Wilson's disease?
There is no cure for Wilson disease. However, with genetic counseling, you might be able to determine whether your current or future children are at risk of developing it. Your health care provider may recommend genetic testing, if there is a strong family or personal history of the condition.
Who first reported Wilson disease?
He recognized the description of what now seems the first report of a patient with Wilson disease by F.T. von Frerichs in his textbook A Clinical Treatise on Diseases of the Liver from 1860 (Murchison’s English translation). In 1883, Westphal reported two cases with a neurological picture with tremor where multiple sclerosis, well known at that time, was considered but not supported by necropsy data. He used “pseudosclerosis” to describe this new condition. Strümpell in 1898 and 1899 reported three other cases of “pseudosclerosis,” the third of whom had cirrhosis. Gowers had termed the condition he described “tetanoid chorea” and had described the association with cirrhosis in both patients (1888, 1906).
What was Kinnier Wilson's MD thesis?
Kinnier Wilson’s MD Thesis, for which he was awarded the Gold Medal at Edinburgh University in 1911 and which was published in Brain in 1912 [3], is a remarkable achievement for such a young man ( Fig. 1 ). He had qualified only 9 years before in 1902 from Edinburgh, Bachelor of Medicine (MB), and completed a BSc with first class honors the following year. He first worked at the National Hospital for the Paralysed and Epileptic (later the National Hospital for Nervous Diseases), Queen Square, London, in 1904 after completing a fellowship in Paris with the neurologist Pierre Marie at Bicêtre Hospital. After taking his membership of the Royal College of Physicians of London in 1907, he produced an acclaimed translation of the book by Meige and Feindel on tics and their treatment and in 1908 published work on apraxia. He then took up a British Medical Association Research Fellowship between 1909 and 1911, during which he did the work for his MD Thesis at Queen Square.
What were the Kayser-Fleischer rings attributed to?
Interestingly, Rumpel in 1913 described increased hepatic copper and silver in one of Fleischer’s patients with “pseudosclerosis” (cited by Hoogenraad [35] ). However, the Kayser-Fleischer rings were attributed to silver. In 1922, Siemerling and Oloff (cited by Walshe [24]) reported Kayser-Fleischer rings and a sunflower cataract—the latter similar to the cataract associated with foreign bodies containing copper—in a patient with pseudosclerosis. They postulated that this disease could be due to the accumulation of copper in viscera, eyes, and the nervous system.
What is the British anti-lewisite?
British Anti-Lewisite (BAL), 2,3-dimercapto-1-propanol, was developed in Oxford during the Second World War by Sir Rudolf Peters and his team as an antidote against arsenical warfare poisoning [46], [47]. In 1946, BAL O -glucoside was reported to increase urinary copper in normal man [48], and as mentioned in the “ Toxin … Copper ” section, in 1948, Mandelbrote et al. reported one patient with Wilson disease in their control group with a baseline high urinary copper that increased after BAL [37].
What were the advances in chemistry in the 19th and 20th centuries?
Advances in chemistry in the 19th and 20th centuries, particularly in the chemistry of coordination compounds (chemical substances in which a central metal atom is surrounded by nonmetal atoms or groups of atoms, called ligands, joined to it by chemical bonds [45] ), underpin the rationale for treating Wilson disease.
Is copper high in Wilson disease?
Although liver, brain, and urinary copper had been shown to be high in Wilson disease, only urine samples were straightforward to obtain—though needing care to insure a complete collection without contamination.
Was cirrhosis a clinical disease?
In Wilson’s paper, as already pointed out, cirrhosis was recognized as part of the disorder, but was not considered to produce clinical problems. In 1916, Byrom Bramwell, whose house physician Wilson had been and who had inspired Wilson to study neurology [17], [19], reported a family in which four siblings had died of “acute fatal cirrhosis” [28]. Early evidence that liver disease might be the only clinical feature of the disease was published between 1925 and 1929 by Barnes and Hurst [29], [30], [31], who described a family where three of eight children had typical Wilson disease but hepatic symptoms came before neurological changes; a fourth child died of severe liver disease without neurological symptoms.
Diagnosis
Treatment
Lifestyle and Home Remedies
Preparing For Your Appointment
Specialist to consult
Overview
Treatment
- Your doctor might recommend medications called chelating agents, which bind copper and then prompt your organs to release the copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine. Treatment then focuses on preventing copper from building up again. For severe liver damage, a liver transplant might be...
Signs and symptoms
- If you have Wilson's disease, your doctor will likely recommend that you limit the amount of copper you consume in your diet. You might also want to have your tap water's copper levels tested if you have copper pipes in your home. And be sure to avoid multivitamins that contain copper. Foods that contain high amounts of copper include: 1. Liver 2. Shellfish 3. Mushrooms 4…
Genetics
- You'll likely first see your family doctor or a general practitioner. You then might be referred to a doctor who specializes in the liver (hepatologist).
Pathophysiology
Wilson's disease is a genetic disorder in which excess copper builds up 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.
Wilson's disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein
Diagnosis
In general, a diet low in copper-containing foods is recommended with the avoidance of mushrooms, nuts, chocolate, dried fruit, liver, sesame seeds and sesame oil, and shellfish.
Medical treatments are available for Wilson's disease. Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet.
Generally, penicillamine is the first treatment used. This binds copper (chelation) and leads to ex…
Prognosis
The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. People with liver problems tend to come for medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson's disease; many of these, wh…
History
The Wilson's disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. The gene codes for a P-type (cation transport enzyme) ATPase that transports copper into bile and incorporates it into ceruloplasmin. Mutations can be detected in 90% of cases. Most (60%) are homozygous for ATP7B mutations (two abnormal copies), and 30% have only one abnormal copy. Ten percent have no detectable mutation.