Wilson's Disease

By: Brad Zimmerman

Symtoms

  • Weakness
  • Fatigue
  • Loss of appetite
  • Nausea
  • Vomiting
  • Weight loss
  • Pain and Bloating
  • Edema (swelling)
  • Itching
  • Spider-like Blood vessels
  • Muscle cramps
  • Yellow skin
  • Tremors or Uncontrolled Movements
  • Muscle stiffness
  • Speech Problems
  • Personality Changes
  • Depression
  • Anxious or Nervous
  • Psychosis
  • Arthritis
  • Low white blood cells
  • Bone marrow conditions
  • Katser-Fleischer Rings

What Is Wilson's Disease

  • Also called Lepatolenticular Degeneration
  • Very Rare, appears in 1 in 30,000 people
  • Causes too much copper to build up in the blood stream

How Its Caused

  • Caused by an autosomal recessive mutation, the defects must be inherited from both parents in a gene known as ATP7B.
  • The gene ATP7B produces a membrane protein that regulates the transport of copper.
  • When the gene is mutated the membrane protein becomes dysfunctional, resulting in insufficient cellular export of copper.

Treatment And Diagnosis


  • Early diagnosis and treatment can reverse the effects of the disease and prevent permanent brain and liver damage.
  • Its Diagnosed with
  • Blood Tests
  • Urine Tests
  • Liver Biopsy
  • Imaging Tests
  • Physical Exams
  • Treatment is aimed at reducing levels of copper in the body.
  • This is done by diet and changes in nutrition, some foods to avoid are Shellfish, Liver, Mushrooms, Nuts, and Chocolate.
  • Liver Transplant

Works Cited

Works Cited

"Wilson disease." Britannica School. Encyclopædia Britannica, Inc., 2016. Web. 24 Mar. 2016.

"Wilson Disease." National Institute of Diabetes and Digestive and Kidney Diseases. N.p., July 2014. Web. 29 Mar. 2016. <http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx>.

"Wilson's Disease." Mayo Clinic. N.p., n.d. Web. 29 Mar. 2016. <http://www.mayoclinic.org/diseases-conditions/wilsons-disease/basics/definition/con-20043499>.

Picture sources

http://medlibes.com/uploads/Screen%20shot%202010-07-04%20at%207.02.29%20PM.png

https://ghr.nlm.nih.gov/dynamicImages/chromomap/ATP7B.jpeg