| Wilson's disease | |
|---|---|
| Other names | Wilson disease, hepatolenticular degeneration |
 | |
| Boy with Wilson's disease | |
| Specialty | Gastroenterology |
| Symptoms | Swelling of the legs, yellowish skin, personality changes[1] |
| Usual onset | Age 5 to 35[1] |
| Causes | Genetic |
| Differential diagnosis | Chronic liver disease, Parkinson's disease, multiple sclerosis, others[2][3] |
| Treatment | Dietary changes, chelating agents, zinc supplements, liver transplant[1] |
| Frequency | ~1 per 30,000[1] |
Wilson's disease (also called Hepatolenticular degeneration) 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.[1]
Wilson's disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. 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.[1]
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 and kidney problems. A liver transplant may be helpful to those for whom other treatments are not effective or if liver failure occurs.[1]
Wilson's disease occurs in about one in 30,000 people.[1] Symptoms usually begin between the ages of 5 and 35 years.[1] It was first described in 1854 by German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson.[4]
- ^ a b c d e f g h i "Wilson Disease". NIDDK. July 2014. Archived from the original on 2016-10-04. Retrieved 2016-11-06.
- ^ Lynn DJ, Newton HB, Rae-Grant A (2004). The 5-minute Neurology Consult. Lippincott Williams & Wilkins. p. 442. ISBN 9780683307238. Archived from the original on 2016-11-07.
- ^ Sahani DV, Samir AE (2016). Abdominal Imaging: Expert Radiology Series (2 ed.). Elsevier Health Sciences. p. 400. ISBN 9780323431613. Archived from the original on 2016-11-07.
- ^ "Whonamedit – dictionary of medical eponyms". www.whonamedit.com. Archived from the original on 2016-11-07. Retrieved 2016-11-06.