Wilson's disease

Wilson's disease (also called hepatolenticular degeneration) is a <a href="/facts/Genetic_disorder/hFqt2NLn">genetic disorder</a> characterized by the excess build-up of <a href="/facts/Copper/I8PEE8oX">copper</a> in the body. Symptoms are typically related to the <a href="/facts/Brain/EKla9NkJ">brain</a> and <a href="/facts/Liver/Rtp4Fk2b">liver</a>. Liver-related symptoms include <a href="/facts/Vomiting/R2vQkHqV">vomiting</a>, weakness, <a href="/facts/Ascites/sftkD7MA">fluid build-up in the abdomen</a>, <a href="/facts/Edema/Q6MI3KdH">swelling of the legs</a>, <a href="/facts/Jaundice/TCyoLMJU">yellowish skin</a>, and <a href="/facts/Pruritus/MBWq6SPc">itchiness</a>. Brain-related symptoms include <a href="/facts/Tremor/rD6ogM7X">tremors</a>, muscle stiffness, trouble in speaking, personality changes, anxiety, and <a href="/facts/Psychosis/cVGd7MKK">psychosis</a>.
Wilson's disease is caused by a <a href="/facts/Mutation/Ee4NnWbY">mutation</a> in the <a href="/facts/Wilson_disease_protein/sI1YhDDA">Wilson disease protein</a> (ATP7B) <a href="/facts/Gene/e1swwPY6">gene</a>. This protein <a href="/facts/Transport_protein/kVVhlTAK">transports</a> excess copper into <a href="/facts/Bile/7c5ufDao">bile</a>, where it is excreted in waste products. The condition is <a href="/facts/Autosomal_recessive/DsvtPyQU">autosomal recessive</a>; 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 <a href="/facts/Liver_biopsy/HeVlkKFT">liver biopsy</a>. <a href="/facts/Genetic_testing/H21wH0ze">Genetic testing</a> 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 <a href="/facts/Chelating_agents/4G79sXBB">chelating agents</a>, such as <a href="/facts/Trientine/VHwtF7DE">trientine</a> and <a href="/facts/D-penicillamine/1N0ErBRB">D-penicillamine</a>, and <a href="/facts/Zinc_supplements/80b1qgk3">zinc supplements</a>. Complications of Wilson's disease can include <a href="/facts/Liver_failure/AB5ocI30">liver failure</a> and <a href="/facts/Renal_tubular_acidosis/PcrVnYW5">kidney problems</a>. A <a href="/facts/Liver_transplantation/0noMXT50">liver transplant</a> may be helpful to those for whom other treatments are not effective or if liver failure occurs.
Wilson's disease occurs in about one in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. It was first described in 1854 by German pathologist <a href="/facts/Friedrich_Theodor_von_Frerichs/bUQg6Xhv">Friedrich Theodor von Frerichs</a> and is named after British neurologist <a href="/facts/Samuel_Alexander_Kinnier_Wilson/uC6LF3mM">Samuel Wilson</a>.

Wilson's disease open-in-new

Wilson's disease