What is Wilson's Disease?
Wilson's disease is an autosomal
recessive mutation that happens in the ATP7B gene in the thirteenth chromosome
(location shown in image). Wilson's disease can affect people of any ethnicity,
but is very rare occurring in about 1 in 30,000 people. This mutation causes
the inability for the body to remove extra copper. The normal ATP7B gene
contains the genetic information to make copper transport proteins. The mutated
ATP7B causes the copper transport proteins to be ineffective or not useful at
all. A small amount of copper, found in
our foods, is necessary to remain healthy. Normally, the liver will remove the
excess copper and release it into bile. Bile is a fluid made by the liver to
remove toxins and wastes from the body through the gastrointestinal tract. With
Wilson's disease, the excess copper will build up in the liver, eyes, brain,
and other organs, and in time can cause life-threatening organ damage.
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Symptoms
Symptoms will start to appear between the ages of five and thirty five. There are three main groups of symptoms: Hepatic, Neurological, and Psychiatric.
Hepatic problems are any problems in liver. Many people will experience:
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Neurological problems are any problems in the nervous system. Symptoms include:
- Movement disorders (tremor, involuntary movements)
- Drooling
- Dysarthria- motor speech disorder
- Rigid dystonia- sustained muscle contractions cause twisting and repetitive movements or abnormal postures
- Pseudobulbar palsy- set of clinical signs including slowed slurred speech; difficulty with swallowing; weakness of face, tongue, and swallowing muscles; a tendency for uncontrollable laughter or crying; and brisk jaw and gag reflexes
- Dysautonomia- problems with the Autonomic Nervous System (heart rate, blood pressure, digestion, ect.)
- Migraine headaches
- Insomnia- sleeping disorder
- Seizures
Psychiatric problems are mental illnesses. Symptoms include:
- Depression
- Neurotic behaviors
- Personality changes
- Psychosis-A serious mental disorder (as schizophrenia) characterized by defective of lost contact with reality, often with hallucinations or delusions
Other symptoms include:
- Ocular: Kayser-Fleischer rings or sunflower cataracts
- Cutaneous: lunulae ceruleae- Spotted skin rash
- Renal abnormalities: aminoaciduria- abnormal amounts of amino acids in urine
- Renal abnormalities: nephrolithiasis- kidney stones
- Skeletal abnormalities: premature osteoporosis- bones become brittle/weak
- Skeletal abnormalities: arthritis- inflammation of joints
- Cardiomyopathy- heart disease
- Dysrhythmias- improper beating of heart
- Pancreatitis- inflammation of pancreas
- Hypoparathyroidism- abnormal levels of parathyroid hormone
- Menstrual irregularities; infertility, repeated miscarriages
Diagnosis
Testing for Wilson's disease is relatively easy and your physician has multiple tests that can be done.
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Treatments
Wilson
disease is a very treatable mutation. Treatment’s purpose is to remove the
excess copper and prevent reformation.
Patients must stay on their correct treatment for life. First, to clear the body of excess copper, and then to prevent the future buildup of copper. Failure to take the correct medication can lead to another buildup of copper, which can be serious - even fatal.
- Penicillamine, known as a chelating agent, is a great treatment for Wilson's disease. It removes the excess copper through urine and prevents future build ups.
- Trientine is a substitute for Penicillamine. It is also a chelating agent.
- Other drugs for treating Wilson disease include Galzin™ in the United States and Wilzin® in Europe. These drugs contain Zinc in them. Zinc stops the absorption of copper. However, it does not clear the excess copper, just prevents it. These drugs are normally used if the patient is not experiencing symptoms or have already taken the correct amount of Penicillamine/Trientine. It may also be taken during pregnancy.
Patients must stay on their correct treatment for life. First, to clear the body of excess copper, and then to prevent the future buildup of copper. Failure to take the correct medication can lead to another buildup of copper, which can be serious - even fatal.
Long-Term Effect
If the diagnosis is quick and the patient stay on the
medications correctly, then a full life expectancy is expected. Wilson disease
is very treatable if caught early. Treatments can add up in expenses, certain
discounts can be given to patients. However, if treatment is not done, Wilson's
disease can be fatal- death can be expected before the age of 40. Some
symptoms that develop before treatment can remain for life.
Wilson's disease patients will have to make certain in dietary situations. They must avoid consuming foods with high amounts of copper such as, shellfish, chocolate, organ meats, nuts, mushrooms, and lobster. Also, it is highly recommended that patients who drink tap water have theirs tested. If the water is .1 mg/L of copper in the water, they should consider another source of water or invest in a filtration system.
Wilson's disease patients will have to make certain in dietary situations. They must avoid consuming foods with high amounts of copper such as, shellfish, chocolate, organ meats, nuts, mushrooms, and lobster. Also, it is highly recommended that patients who drink tap water have theirs tested. If the water is .1 mg/L of copper in the water, they should consider another source of water or invest in a filtration system.
References
"ATP7B." Genetics
Home Reference. US National Library of Medicine, 2015. Web. 19 Feb. 2015.
<http://ghr.nlm.nih.gov/gene/ATP7B>.
"Wilson Disease." National Institute of Diabetes and Digestive and Kidney Diseases. The National Institute of Diabetes and Digestive and Kidney Diseases, 2015. Web. 19 Feb. 2015. <http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx>.
Wilson Disease Association. The Wilson Disease Associaiton, 2009. Web. 18 Feb. 2015. <http://www.wilsonsdisease.org/>.
"Wilson's Disease." Patient. Egton Medical Information Systems, 2015. Web. 19 Feb. 2015. <http://www.patient.co.uk/health/wilsons-disease-leaflet>.
"Wilson Disease." National Institute of Diabetes and Digestive and Kidney Diseases. The National Institute of Diabetes and Digestive and Kidney Diseases, 2015. Web. 19 Feb. 2015. <http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx>.
Wilson Disease Association. The Wilson Disease Associaiton, 2009. Web. 18 Feb. 2015. <http://www.wilsonsdisease.org/>.
"Wilson's Disease." Patient. Egton Medical Information Systems, 2015. Web. 19 Feb. 2015. <http://www.patient.co.uk/health/wilsons-disease-leaflet>.