Wilson's disease

Wilson's disease
Other namesWilson disease, hepatolenticular degeneration
Boy with Wilson's disease
SpecialtyGastroenterology
SymptomsSwelling of the legs, yellowish skin, personality changes[1]
Usual onsetAge 5 to 35[1]
CausesGenetic
Differential diagnosisChronic liver disease, Parkinson's disease, multiple sclerosis, others[2][3]
TreatmentDietary 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]

  1. ^ 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.
  2. ^ 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.
  3. ^ 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.
  4. ^ "Whonamedit – dictionary of medical eponyms". www.whonamedit.com. Archived from the original on 2016-11-07. Retrieved 2016-11-06.