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Wilson disease
Sign in to saveAlso known as Cerebral pseudosclerosis (disorder), Westphal pseudosclerosis, Westphal-Strumpell syndrome (disorder), hepatolenticular degeneration, Wilson's disease, Cerebral pseudosclerosis, Westphal-Strumpell syndrome, WD
multisystem disease due to abnormal accumulation of copper
Wilson disease is a genetic condition in which copper accumulates abnormally in the body, damaging multiple organs and systems. It matters because the buildup can cause serious health problems, but the condition can often be managed with treatment if caught and diagnosed.
AI-generated from the Wikipedia summary — may contain errors.
Key facts
- Other names
- Wilson disease, hepatolenticular degeneration
- Specialty
- Gastroenterology
- Symptoms
- Swelling of the legs , yellowish skin , personality changes
- Usual onset
- Age 5 to 35
- Causes
- Genetic
- Differential diagnosis
- Chronic liver disease , Parkinson's disease , multiple sclerosis , others
- Treatment
- Dietary changes, chelating agents , zinc supplements , liver transplant
- Frequency
- ~1 per 30,000
via Wikipedia infobox
Research
36,459 papers- Wilson Disease: Diagnosis, Treatment, and Follow-up.Clinics in liver disease · 2017
- Wilson disease.Current opinion in neurology · 2020
- Wilson Disease: An Overview and Approach to Management.Neurologic clinics · 2020
- Wilson Disease in Children.Clinics in liver disease · 2022
- Wilson Disease.Continuum (Minneapolis, Minn.) · 2016
via PubMed
~26 min read
Encyclopedic overview
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.
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 Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson.
Excerpted from Wikipedia’s “Wilson disease” article, available under the CC BY-SA 4.0 licence.