Are you suffering from tremors, muscular stiffness and difficulties in speaking properly? Look out, for you may be having a condition called Wilson Disease. Read and know all about the causes, symptoms, diagnosis and cure of Wilson Disease.
What is Wilson Disease?
Page Contents
Picture 1 – Wilson Disease
Source – doctortipster
This is a rare hereditary condition that leads to an accumulation of excessive copper in the tissues of the liver. It causes a build-up of copper in the brain, liver and other major organs of the body.
The condition is also referred to as “Wilsons Disease”.
Kimmelstiel-Wilson Disease
Kimmelstiel Wilson Disease is a kidney ailment that is associated with long-time diabetes. It affects the small blood vessels located in the glomerulus and is characterized by hypertension (high blood pressure), progressive loss of kidney function and high passage of protein into the urine.
Wilson Disease and Ceruloplasmin
Ceruloplasmin is a protein manufactured in the liver. In Wilson Disease, copper gets mixed with this protein and there is a severe drop in its level. A drop in Ceruloplasmin is also noticed in other disorders like Aceruloplasminemia and Menkes Disease.
Wilson Disease Symptoms
This condition initially attacks the Central Nervous System (CNS) or the liver. In some cases, it can affect both of them. Excessive buildup of copper in liver may give rise to liver disorders. In rare cases, acute liver failure may occur. Most patients suffer from symptoms associated with Chronic Liver Disease such as
- Inflammation of the spleen or the liver
- Accumulation of fluids in the abdomen or the legs
- Vulnerability to formation of bruises
- Fatigue
- Jaundice, marked by yellowing of the white of the eyes and the skin
Accumulation of copper in the Central Nervous System (CNS) may lead to neurological symptoms like
- Stiffness of the muscles
- Difficulties in physical coordination, swallowing and speech
- Behavioral changes
- Uncontrolled movements and tremors
The most unique symptom of Wilson Disease is the development of rusty-brown Kayser-Fleischer rings in each eye. These arise from an accumulation of copper in the eyes and are seen in the rim of the cornea as well as the edge of the iris.
Some other prominent symptoms of Wilson Disease are
- Arthritis
- Premature Osteoporosis
- Reduced coagulation (clotting) of blood, measured by blood tests
- High levels of carbohydrates in urine, uric acid, protein and amino acids
- Reduced platelets
- Reduced number of white blood cells
What Causes Wilson Disease?
As aforesaid, this condition is caused by an accumulation of copper in the body. In healthy individuals, the liver filters copper out of the diet and releases them into bile. The copper enters the gastrointestinal tract to flow out of the body.
Individuals suffering from this condition fail to release copper at a normal rate. This happens due to a mutation of the gene known as ATP7B. When the level of copper becomes more than the storage capacity of liver, copper is discharged into the bloodstream and flows into the organs like eyes, kidneys and the brain.
Wilson Disease Diagnosis
This disorder is diagnosed with the aid of physical examination as well as laboratory tests. During physical examination, a special light is used to look for rusty brown rings in the eyes. Kayser-Fleischer rings can be found in almost all sufferers of Wilson Disease who display symptoms of neurological damage. However, these are present in only half of all individuals with signs of liver damage.
Laboratory tests are used to detect the amount of copper in the liver tissue, urine and blood. A 24-hour analysis of urine collection can effectively display increase of copper levels in the urine of Wilsons Disease sufferers. A Liver Biopsy can reveal the quantity of copper in liver. In individuals inheriting the disease from parents, Genetic testing may be helpful for diagnosis.
It is essential to diagnose this disorder properly as it is a very rare condition and can be misdiagnosed. This is also due to the fact that its symptoms are similar to several other disorders.
Wilson Disease Treatment
Unlike most other disorders, this condition requires life-long cure to reduce and manage the quantity of copper in the body. Initial therapy involves
- Removal of surplus copper
- Reduction in ingestion of copper
- Treatment of any damage in the Central Nervous System (CNS) or liver
Doctors often use medicines like Trientine Hydrochloride (Syprine) and d-penicillamine (Cuprimine) for curing this disorder. These drugs release copper from various organs like liver and brain and discharge them into the bloodstream. Most of the amount of copper is filtered out by the kidneys and excreted in the urine. These drugs are also administered to pregnant women to lessen the risk of birth defects in unborn infants. However, only a lower dose of these drugs should be given to pregnant women as they can aggravate neurological symptoms in patients. Approximately 20-30% patients with this condition and using d-penicillamine experience side-effects like rashes, fever and other effects on bone marrow and kidneys.
Zinc is another component that obstructs the absorption of copper from food material. Zinc is administered as salts like Zinc Acetate (Galzin). However, it works too slowly to remove copper from the system and is therefore used along with medications.
Wilson Disease Diet
People with this condition have to lessen their copper intake. They have to strictly adhere to a copper-free diet for this purpose. All food items high in copper such as liver, shellfish, nuts, chocolate and mushroom should be avoided during initial therapy. They should ensure that their drinking water is free of copper. Multivitamins containing this mineral should also be avoided.
Wilson Disease Prognosis
With proper treatment and therapies, the symptoms begin to clear up after 5 to 6 months. It normally takes about 2 years for a person to make a substantial recovery. However, the disorder can require life-long management to prevent recurrence and overcome deficits resulting from it.
When diagnosed and treated early, an individual with this condition can enjoy a normal health just like any other person. If you are experiencing symptoms of this disorder, immediately get in touch with a healthcare provider. An early cure will help you make a faster recovery from this discomforting disease.
References:
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/
http://www.nlm.nih.gov/medlineplus/wilsondisease.html
http://emedicine.medscape.com/article/183456-overview
http://www.netdoctor.co.uk/diseases/facts/wilsonsdisease.htm
http://www.mayoclinic.com/health/wilsons-disease/DS00411
