Wilson’s Disease

Yurani FarfanMr. Trefz Genetics

Wilson’s Disease?• Wilson’s disease is a

genetic disorder in which the body is receiving extra copper in the body tissues. The body receives copper from certain foods like mushrooms, turnip greens, spinach, eggplant, cashews, summer squash and most other with enriched vitamins. In Wilson disease, copper builds up in the liver, brain, eyes, and other organs. Too much of high level copper can cause life-threatening organ damages and poisoning in the body tissues.

What does Copper do to the body?

• Copper plays a big part in our metabolism and also maintains the functions in the enzymes in our bodies. Copper has another job in bone development, tissue reconnection, hair and skin development. The average human needs about 75-100 milligrams of copper in their diet. Basically the size of penny.

Who can get Wilson Disease?• Wilsons disease is a rare

and common disease found in humans. People who have Wilson’s disease inherit two copies of a ATP7B gene that are abnormal from the parent gene. About 1 to 40,000 people have Wilson’s Disease. It affects men and women. The start of Wilson’s Disease is around the ages 5 to 35. But other studies showed that it can happen at the age of 2 and 72.

Symptoms Of Wilson’s Disease

• Symptoms of this disease are…

• Swelling of the Spleen• Yellowing in the skin and

whites in the eyes.• Fluid build up in the legs and

lower abdomen• You can bruise easily• Get tired really easily• Muscle stiffness• Problems with speaking,

swallowing and coordination• Low level of white blood cell

count• High level of amino acids,

protein, uric acids.• Mood swings

Exams & Tests • When having a test for Wilson’s

disease, doctors will check for…• Yellow in iris • Limited movement in the eyes• Physical examination of central

nervous system, coordination, loss of thinking, stiffness in muscles, and memory loss.

• Liver or spleen disorders • Lab test will also look into white

blood cell count, copper, and uric acid.

• Problems in the liver will be tested for High AST & ALT , high bilirbin , PT and PTT

• And Low Albumin

Diagnosis

Treatment • Wilson’s Disease is a life long

disease. Therapy will have to be in place. The therapy removes excess copper in the body before any poising in the body occurs. Medication is provided for Wilson’s disease. Women who are pregnant should take a less amount of the medication. The medication is d-penicillamine (Cuprimine) and trientine hydrochloride (Syprine). These both drugs release the cooper in the organs so they don’t build up.

What to avoid!

• People who have Wilson’s disease are on a strict diet. They cannot have a large amount of copper. They should avoid Chocolate, Shellfish, dried fruit, Mushrooms, and Nuts. When drinking water people with this disease must have their water checked out just in case it has copper.

Biliography• http://www.whfoods.com/genpage.php?tname=nutrient&dbid=53• http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/#what• https://health.google.com/health/ref/Wilson's+disease• http://health.nytimes.com/health/guides/disease/wilsons-disease/overview.html• "ATP7B." Encyclopædia Britannica. 2009. Encyclopædia Britannica Online. 11 Nov. 2009

<http://www.britannica.com/EBchecked/topic/1525291/ATP7B>.