Management of wilson disease a pocket guide michael l. Wilsons disease wd is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Affected patients accumulate excessive copper within the liver, brain and other tissues. Wilsons disease herbal treatment, prevention, symptoms. Wilsons disease wd is a genetic disorder of copper metabolism that leads to copper accumulation in various organs, primarily the liver and brain. Treatment of this disease is based on an initial active and prolonged. Although copper accumulation begins at birth, symptoms of the disorder only appear later in life. 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. Treatment of wilsons disease with tetrathiomolybdate. The treatment of wilsons disease depends on how severe the liver disease is.
Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Abstract wilsons disease wd is a potentially fatal disorder of chronic. Wilsons disease wd is a genetic disease that prevents the body from metabolizing processing copper, which then builds up to toxic levels in the liver, brain, andor other organs. Nonceruloplas minbound copper or free copper can be calculated by sub. Other agents include sodium dimercaptosuccinate, dimercaptosuccinic acid, zinc, and tetrathiomolybdate. Knowledge of the clinical presentations and treatment of the disease are important both to the generalist and to specialists in gastroenterology and hepatology, neurology, psychiatry, and paediatrics. Because of the varied modes of hepatic presentation that wilson s disease can assume, any individual younger than age 50 years with unexplained liver disease should be screened for wilson s disease. Zincinduced deterioration in wilsons disease aborted by treatment with penicillamine, dimercaprol, and a novel zero copper diet. Patients may become progressively sicker from day to day, so immediate treatment can be critical. Data from the french wilsons disease registry covering 604 patients found that 51.
Initially described by kinnear wilson1 in 1912, wilsons disease wd. The treatment requires drugs to remove and prevent reaccumulation of copper deposits. Wilson disease information page national institute of. 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. Wilsons disease, or hepatolenticular degeneration, is now known to result from defective biliary copper excretion with copper accumulation in several tissues, including the liver, brain, and cornea. Bullous pemphigoid induced by penicillamine in a patient with wilson disease. Advances in the diagnosis and treatment of wd are presented in this article with the emphasis that this is a disease of children, adolescents, and. Wilsons disease treatment treatment includes medication that tends to decrease the copper absorption or remove excess of copper in the body.
Treatment for wilson disease is a lifelong process. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Schilsky2 preamble this guideline is intended for use by physicians. The buildup of copper leads to damage in the liver, brain, and eyes. Because of the varied modes of hepatic presentation that wilsons disease can assume, any individual younger than age 50 years with unexplained liver disease should be screened for wilsons disease. Prompt recognition and treatment are paramount and lifesaving. This is normal and necessary because the body needs copper to ensure that our cells work properly and make.
As their purpose is to direct patient care, these guidelines should not be considered. Its an uncommon disorder affecting one in every 30,000 people. Wilsons disease is an inherited disorder of copper metabolism caused by a mutation in the coppertransporting gene atp7b, and it results in excessive copper accumulation in. Zinc salts act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. Global wilsons disease treatment market is segmented by indication hepatic, neuropsychiatric, ophthalmic, others, by treatment medicationsdpenicillamine, trientine, zinc, tetrathiomolybdateothers, by distribution channel hospitals, clinics, others, and by region north america, latin america, europe, asia pacific, middle east, and africa share, size, outlook, and. Department of health and human services, 2015, the prevalence of wilsons disease in the united states is 1 in 55,000 births with wilsons disease an.
The chronic liver injury in wilsons disease is caused by excess free copper, and the liver disease often stabilizes or even improves once the excess copper is. For this reason, serum free copper, calculated as covered in the penicillamine section, is often followed. Wilsons disease diagnosis and treatment mayo clinic. Acute liver failure sudden damage to the liver may require an urgent liver transplant. The modern treatment of wilsons disease omics international. Wilsons disease genetics and genomics jama neurology. Copper removal is achieved by the administration of potent chelators. It is also treated with a regular and even life long use of chelating agents such as the used of. Wilsons disease symptoms, diagnosis, treatments and. Wilsons disease, also known as hepatolenticular degeneration, is a genetic disorder which results in the excessive accumulation of copper in the body. This is a disease which requires treatment for all your life.
It describes preferable uptodate approaches to the diagnosis and treatment of patients with wilson disease. Chelators, copper, gene therapy, wilson disease wd, zinc. A century after its initial description by kinnear wilson in 1912, knowledge on diagnosis and management of wilsons disease reflect its prevalence as a rare disease, largely deriving from experts opinions and the use of pharmacological agents without the rigorous randomized clinical trials that are the mainstay. Wilsons disease childrens liver disease foundation. Treatment of wilsons disease wd is important because the disease can be halted, and. Lifetime therapy aimed primarily at treating copper overload is required in patients with wilson disease, and treatment should be considered in two phases. Fatal deterioration of wilsons disease after institution of oral zinc therapy.
Wilsons disease, however, is the development of progressive cirrhosis. The metabolic disorder which causes excessive accumulation of copper in the brain, kidneys, eyes and the liver is called wilsons disease. The pragmatic treatment of wilsons disease aggarwal 2014. You need a small amount of copper from food to stay healthy. Wilsons disease treatment market innovative treatments. With wilson disease, the copper builds up in your liver, and it releases the. Department of health and human services, 2015, the prevalence of wilsons disease in the united states is 1. Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. 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. Drugs used to treat wilsons disease the following list of medications are in some way related to, or used in the treatment of this condition.
An inevitably fatal disease at the time of wilsons description, several treatment options are now available to control the disease manifestations. The wilson disease gene is a putative copper transporting ptype atpase similar to the menkes gene. Wilsons disease is a disease of the whole body and the metabolism. Natural cure for wilsons disease and alternative treatments. Furthermore, aceruloplasminemia see below does not cause any symptoms related to wilsons disease 37. In the majority of cases, wd manifests its presence during childhood or teenage years in the form of liver symptoms. Wilson disease symptoms, diagnosis and treatment bmj. Treatment of neurological symptoms in wilson disease. For a person to be affected, he or she must inherit. Wilsons disease, also known as hepatolenticular degeneration, is an autosomal recessive genetic disorder due to a mutation of the atp7b gene resulting in impaired hepatic copper. Springer nature is making sarscov2 and covid19 research free.
Wilson s disease, however, is the development of progressive cirrhosis. However, when caught and treated early, people with wilsons disease can expect to live normal. All drug classes chelating agents 3 minerals and electrolytes 2 antirheumatics 5. Classification and differential diagnosis of wilsons disease. While the clinical variability of wilson disease poses a challenge from a diagnostic approach, the book uses the translational impact of new research findings to relate to new.
Wilson disease wd is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. Wilsons disease is a rare inherited disease that can eventually result in serious harm to the nervous system, kidneys, and eyes. Chronic liver disease damage to the liver over a period of time can be treated using a number of different medications which. In the normal state, copper balance is tightly regulated. Wilsons disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, atp7b, results in absent or reduced function of the atp7b transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Control of free copper by tetrathiomolybdate and a comparison with trientine it has become clear that serum free copper. Normally, your liver releases extra copper into bile, a digestive fluid. Progressive hepatolenticular degeneration, or wilsons disease, is a genetic disorder of copper metabolism. Trientine proved to be an effective alternative copper chelating agent in the treatment of wilsons disease in patients with penicillamineinduced neutropenia, thrombocytopenia, sle, and nephrosis.
Pathogenesis, molecular mechanisms, diagnosis, treatment and monitoring translates both clinical and experimental findings into a comprehensive approach for anyone involved in research and patient care. The course of liver disease in wilsons disease stands in contrast to other forms of cirrhosis for many people. It is an inherited disorder which excretes excess of copper into the multiple organs. Treatment of wilsons disease with triethylene tetramine. This may be achieved by better control of socalled free copper or. Request pdf treatment of wilsons disease with tetrathiomolybdate. Pdf wilsons disease wd is characterised by a deleterious accumulation of. The mainstay of therapy for wilson disease is pharmacologic treatment with chelating agents such as dpenicillamine and trientine.
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