Wilson's Disease

Wilson's Disease

Last Reviewed : 12/29/2020
Wilson's Disease

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.


Basic information:

http://www.mayoclinic.org/diseases-conditions/wilsons-disease/basics/definition/con-20043499 mayo clinic wilson’s disease

http://www.healthline.com/health/wilsons-disease health line wilson’s disease

https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease national institute of digestive diabetes and kidney disorders wilson’s disease

https://www.genome.gov/27532725/learning-about-wilson-disease/ genome wilson’s disease

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/wilsons-disease better health wilson’s disease

http://www.liverfoundation.org/abouttheliver/info/wilson/ liver foundation wilson’s disease

https://medlineplus.gov/ency/article/000785.htm medline plus wilson’s disease

http://www.medicinenet.com/script/main/art.asp?articlekey=11572 medicine net medical definition of wilson disease

http://my.clevelandclinic.org/health/articles/wilson-disease cleveland clinic wilson’s disease

http://patients.gi.org/topics/wilson-disease/ american college of gastro enterology wilson disease

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

http://www.aboutkidshealth.ca/en/healthaz/conditionsanddiseases/geneticdisorders/pages/wilson-disease.aspx about kids health wilson’s disease

http://www.webmd.com/digestive-disorders/wilsons-disease-directory web md wilson’s disease

http://umm.edu/health/medical/ency/articles/wilsons-disease university of maryland medical center wilson’s disease

http://www.news-medical.net/health/wilsons-disease.aspx news medical wilson’s disease


Advanced information:

http://emedicine.medscape.com/article/183456-overview medscape wilson’s disease

http://patient.info/in/health/wilsons-disease-leaflet patient wilson’s disease

https://medlineplus.gov/wilsondisease.html medline lus wilson’s disease

https://rarediseases.org/rare-diseases/wilson-disease/ national organisation of rare diseases wilson’s disease

https://labtestsonline.org/understanding/conditions/wilsons/ lab tests online wilson’s disease

http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/wilson-disease/ cleveland clinic wilson's disease

https://radiopaedia.org/articles/wilson-disease-2 radiopedia wilson disease

https://www.physio-pedia.com/wilson's_disease physiopedia wilson's disease



http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4045667&blobtype=pdf cocos¸ r, s¸endroiu a, schipor s, bohiˆlt¸ea lc, s¸endroiu i, et al. (2014) genotype-phenotype correlations in a mountain population community with high prevalence of wilson’s disease: genetic and clinical homogeneity. plos one 9(6): e98520. doi:10.1371/journal.pone.0098520

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s0004-282x2013000800503&lng=en&tlng=en arq. neuro-psiquiatr. vol.71 no.8 são paulo aug. 2013 http://dx.doi.org/10.1590/0004-282x20130078 articles wilson's disease in southern brazil: genotype-phenotype correlation and description of two novel mutations in atp7b gene by ricardo schmitt de bem et al.,

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1516-44462011000100021 rev. bras. psiquiatr. vol.33 no.1 são paulo mar. 2011 http://dx.doi.org/10.1590/s1516-44462011000100021 letters to the editors long-term mood disorder antedating the diagnosis of wilson's disease

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc3390108&blobtype=pdf : gray lw, peng f, molloy sa, pendyala vs, muchenditsi a, et al. (2012) urinary copper elevation in a mouse model of wilson’s disease is a regulated process to specifically decrease the hepatic copper load. plos one 7(6): e38327. doi:10.1371/journal.pone.0038327

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s0004-282x2014000800592&lng=en&tlng=en arq. neuro-psiquiatr. vol.72 no.8 são paulo aug. 2014 epub july 04, 2014 http://dx.doi.org/10.1590/0004-282x20140090 articles : small fiber dysfunction in patients with wilson's disease by francisco de assis a. gondim et al.,

roy u, panwar a, hussain z, biswas d. the entire spectrum of typical and atypical magnetic resonance imaging changes in a single case of wilson's disease. j neurosci rural pract [serial online] 2016 [cited 2017 jan 27];7:321-2. available from: http://www.ruralneuropractice.com/text.asp?2016/7/2/321/178653

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

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4065050&blobtype=pdf : han y, zhang f, tian y, hu p, li b, et al. (2014) selective impairment of attentional networks of alerting in wilson’s disease. plos one 9(6): e100454. doi:10.1371/journal.pone.0100454

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1980-57642016000400320&lng=en&tlng=en dement. neuropsychol. vol.10 no.4 são paulo oct./dec. 2016 http://dx.doi.org/10.1590/s1980-5764-2016dn1004011 original articles which factors are associated with global cognitive impairment in wilson's disease? by norberto anízio ferreira frota et al.,

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1980-57642009000100016&lng=en&tlng=en dement. neuropsychol. vol.3 no.1 são paulo jan./mar. 2009 http://dx.doi.org/10.1590/s1980-57642009dn30100004 views & reviews cognitive impairment in wilson's disease by norberto anízio ferreira frota et al.


Other helpful resources(support groups):

http://www.wilsonsdisease.org/ wilson’s disease support group


Related videos:

https://www.youtube.com/watch?v=cr8r_bnkatk wilson's disease - causes, symptoms, diagnosis, treatment & pathology

https://www.youtube.com/watch?v=souzgwsa5eg wilson’s disease

https://www.youtube.com/watch?v=jjt0xosh-lu wilson’s disease

https://www.youtube.com/watch?v=iwzzbe_arjs wilson’s disease

https://www.youtube.com/watch?v=_ncvje6n2ju wilson’s disease


Presentations/quiz/newspaper articles:

http://timesofindia.indiatimes.com/life-style/health-fitness/health-news/what-is-wilsons-disease/articleshow/10168642.cms times of india what is wilson's disease?

http://www.dailymail.co.uk/health/article-3417267/student-refused-entry-clubs-slurred-speech-staggering-look-drunk-told-deadly-illness-causing-symptoms.html daily mail student refused entry to clubs because her slurred speech and staggering made her look 'drunk' is told deadly illness is causing her symptoms

read more: http://www.dailymail.co.uk/health/article-3417267/student-refused-entry-clubs-slurred-speech-staggering-look-drunk-told-deadly-illness-causing-symptoms.html#ixzz4x3swajh3

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