Wilson's disease is a genetic disorder in which copper builds up in the body. Symptoms are typically related to the brain andliver. 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 speaking, personality changes, anxiety, andseeing or hearing things that others do not.
Wilson's disease is an autosomal recessive condition due to a mutation in the Wilson disease protein (ATP7B) gene. For a person to be affected they must inherit an affected copy of the gene from each parent. Diagnosis may be difficult and often involves a combination of blood tests, urine tests, and a liver biopsy. Genetic testing may be used to screen family members of those affected.
Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve eating a low copper diet and not using copper cookware. Medications used include chelating agents such as trientine and d-penicillamine and zinc supplements. Complications of Wilson's disease can include liver failure, liver cancer, and kidney problems. A liver transplantmay 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. Males and females are equally affected. It was first described in 1854 by Friedrich Theodor von Frerichs and is named after Samuel Wilson.
We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.
nimisha d, dhruv b, vikas m, sneh jk, rakesh s. misdiagnosis of wilson's disease in a patient with psychiatric symptoms. indian j psychol med [serial online] 2016 [cited 2017 jan 27];38:353-6. available from: http://www.ijpm.info/text.asp?2016/38/4/353/185949