degeneration Copper storage disease Wilsons disease causes the body to take in and keep too much copper The copper deposits in the liver brain kidneys and the eyes The deposits of copper cause tissue damage death of the tissues and scarring which causes the affected organs to stop working ID: 920426
Download Presentation The PPT/PDF document "Wilson's Disease hepatolenticular" is the property of its rightful owner. Permission is granted to download and print the materials on this web site for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.
Slide1
Wilson's Disease
hepatolenticular degeneration
Copper storage disease
Wilson's disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop working correctly.
Slide2Who is most likely to get this disorder and how common is it?
Wilson's disease is rare, affecting only 1 in 30,000 of the population.It affects females more than males in a 4:1 ratio
This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4.
Slide3Symptoms
The liver is most commonly affected by the disease followed by the brain.
Liver symptoms:
Hepatitis(liver inflammation)
Tiredness and loss of appetite Abdominal p
ain
Swelling of ankles or abdomen
Enlargement of liver or spleen
Bleeding from the gut or coma in severe cases.
Kayser-Fleischer Rings
Neurological symptoms:
Tremors or shaking
Poor co-ordination
Difficulty with speech, eating or walkingPatients may look like older sufferers of Parkinson’s diseasewith rather fixed and rigid postures and little spontaneous movement.
Rare symptoms:Kidney damage, shown by blood and protein in the urine.Anemia (thin blood), if the blood is affected
Psychiatric symptoms:
These include personality changes, mood disturbances, depression, anxiety or phobias, or just poor memory.
Slide4Is the disorder deadly and will it shorten lifespan?
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
Slide5Can you be tested for Wilson’s Disease?
A slit-lamp eye examination may show:
Limited eye movementRusty or brown-colored ring around the iris (Kayser-Fleischer rings)
A physical examination may show signs of:Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and IQ, loss of memory, and confusion (delirium or dementia)Liver or spleen disorders
Lab tests may include:Complete blood count (CBC)
Serum ceruloplasmin
Serum copper
Serum uric acid
Urine copper
Slide6Is there a treatment? Does it cure/treat the symptoms?
The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation -- certain medications can bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong.
A low-copper diet may also be recommended. Foods to avoid include:ChocolateDried fruitLiverMushrooms
NutsShellfishThe following medications may be used:Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine.Trientine (Syprine) binds (chelates) the copper and increases its release through the urine.
Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract.Vitamin E supplements may also be used.
Slide7Are there support groups?
Wilson's disease support groups can be found at
www.wilsonsdisease.org and www.geneticalliance.org
Slide8Interesting facts
Genetic counseling is recommended for people with a family history of Wilson's disease.
Hereditary copper accumulation has been described in Bedlington Terriers, where it generally only affects the liver. It is due to mutations in the COMMD1 (or MURR1) gene. In non-Wilsonian
copper accumulation states (such as Indian childhood cirrhosis), no COMMD1 mutations could be detected to explain their genetic originThe disease bears the name of the British physician Samuel Alexander Kinnier Wilson (1878–1937), a neurologist who described the condition, including the pathological changes in the brain and liver, in 1912
Slide9Inheritance Pattern
If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder.Autosomal recessive
Slide10What chromosome/gene is it located on?
the gene called ATP7B is the gene that scientists think the mutation is on. The ATP7B gene provides instructions for making a protein that plays a role in the transport of copper from the liver to other parts of the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.
Slide11Works Cited
"Wilson's Disease." CNN.com - Breaking News, U.S., World, Weather, Entertainment & Video News. Web. 26 Jan. 2011. <http://157.166.226.26/HEALTH/library/wilsons-disease/DS00411.html>.
"Wilson's Disease: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. 15 Dec. 2010. Web. 26 Jan. 2011. <http://www.nlm.nih.gov/medlineplus/ency/article/000785.htm>.
"Inheritance and Genetics of Wilson's Disease - WrongDiagnosis.com." Wrong Diagnosis. 26 Jan. 2011. Web. 26 Jan. 2011. <http://www.wrongdiagnosis.com/w/wilsons_disease/inherit.htm>.