In my January 2013 newsletter Copper and Health, the inherited disorder Wilson Disease is mentioned: "Wilson's Disease is a rare inherited disorder. It leads to deposits of copper in the liver, brain and other organs with resultant dysfunction of those organs."
Dr Samuel Alexander Kinnier Wilson (1878-1937), a neurologist in Britain, first described the disease named after him in 1912. He called the condition "progressive lenticular degeneration".
This inherited disorder, in the literature, has two names:
- Wilson Disease. For example, the Wilson Disease Association (WDA) International (www.wilsonsdisease.org), the American Association for the Study of Liver Disease (www.aasld.org) and Medline Plus (www.nlm.nih.gov/medlineplus) all use ‘Wilson Disease’.
- Wilson's Disease. The Mayo Clinic (www.mayoclinic.com), Better Health (www.betterhealth.vic.gov.au), the Virtual Medical Centre (www.virtualmedicalcentre.com) and the Net Doctor (www.netdoctor.co.uk), to name but a few, all use ‘Wilson’s Disease’.
In this newsletter, ‘Wilson Disease’ will be used.
Wilson disease, as indicated in my earlier newsletter, is an inherited disorder that causes too much copper to accumulate in the liver, brain and other vital organs. Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment. A small amount of copper obtained from food is needed to stay healthy. Full details of the role of copper in health are set out in my newsletter. Too much or excessive amounts of copper in the body is poisonous.
The Cause of Wilson Disease
Normally, copper is absorbed from the food, and any excess is excreted via the liver into the bile and hence into the gastrointestinal tract. People who have Wilson disease cannot excrete copper via the liver at a normal rate. This is due to a mutation in the gene on chromosome 13 that contains the blueprint for the Wilson disease protein (ATP7B), which helps transport copper into the bile. This gene was first identified in 1993. Thus the copper accumulates in the liver, sometimes to toxic levels, and when the copper storage capacity of the liver is exceeded, copper is released into the blood stream where it is carried to other organs, including the brain, kidneys and eyes.
Wilson disease is a double recessive illness: the abnormal copy of the ATP7B gene has to be inherited from both parents. If one parent only has the defective gene, then the child is a carrier i.e. has but one abnormal gene (the other from the other parent being normal), and does not have the disease. When both parents are carriers, the four possible outcomes in each conception are: one completely health child (both genes being normal), two carriers (one gene being abnormal) and one with the disease (both genes being abnormal). Most people with Wilson disease have no family history of the condition. Carriers are normal, with no evidence of abnormal copper metabolism. Wilson disease occurs in an average of about 1 in 30,000 people world wide, and 1 in 90 carry the defective gene (heterozygous carriers).
Symptoms of Wilson Disease
Symptoms of Wilson disease usually appear between the ages of 5 and 35 years. Presentation may rarely be younger, or even as late as 70 years.
Symptoms of liver failure and damage to the nervous system (brain and spinal cord) are the most predominant, and the most dangerous, life threatening. The effects of this disorder, if not treated early, can be fatal.
Patients with liver problems tend to be diagnosed earlier (as children or teenagers) than those with neurological symptoms (in their twenties or older).
· Liver Symptoms
The build-up of copper in the liver can cause ongoing chronic liver disease, which can progress to cirrhosis (scarring of the liver). The signs and symptoms of liver disease include fatigue, abdominal pain and jaundice (yellowing of the skin and the whites of the eyes). Later in the untreated disease, there may be bleeding in the gut, which shows as vomiting of red blood or black coloured stools (melena). Other signs and symptoms may include fluid build up in the abdomen (ascities) or legs (oedema), an enlarged spleen and a tendency to bruising.
· Neuropsychiatric Symptoms
About half the patients with Wilson disease have neurological or psychiatric symptoms. Mild cognitive deterioration and clumsiness are common, as well as changes in behaviour, problems with speech and other muscle movements.
Many people with Wilson disease, even those without other signs and symptoms, develop distinctive golden brown pigmentation around their corneas, called Kayser-Fleischer rings. This is caused by deposits of copper, and they are often found at routine eye examination.
Wilson disease can also interfere with the filtering function of the kidneys and can lead to osteoporosis. Kidney stones are also not uncommon.
· Other Organs
The heart may be affected with cardiomyopathy (weakness of the heart muscle) and cardiac arrhythmias.
Copper accumulation can lead to hypoparathyroidism, infertility and spontaneous abortion.
Diagnosis of Wilson Disease
The diagnosis is made by a combination of history, physical examination and laboratory tests.
- Eye examination to determine the presence of Kayser-Fleischer rings.
- Blood and urine tests. Laboratory tests are done to measure the amount of ceruloplasmin (the protein that transports copper on the blood) and copper in the blood, and to test the amount of copper excreted in the urine in a 24-hour period. Most people with Wilson disease will have lower than normal levels of copper in the blood, and a corresponding lower level of ceruloplasmin. A 24-hour urine collection will show raised levels of copper in the urine in most patients who show symptoms.
- Liver biopsy, where a small sample of the liver is removed for microscopic examination. There is a unique pattern in Wilson disease.
- Magnetic resonance imaging (MRI) of the brain is usually performed when neuropsychiatric symptoms are present.
The most ideal test is liver biopsy.
Treatment of Wilson Disease
Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and often the symptoms can be improved. Left untreated, Wilson disease may be fatal.
Lifelong treatment is required to reduce and control the levels of copper on the body. Once treatment commences, many of the signs and symptoms improve. Some problems, however, may take time to resolve. Other problems, such as cirrhosis, may not be reversible.
Treatment is initially aimed at removing excess accumulated copper and subsequently to prevent its re-accumulation. The initial aim is to remove excess copper, to reduce copper intake and to treat any liver or central nervous system damage.
Excess copper is removed by means of chelating drugs, which are chemicals that bind metals and minerals. The chelating drug joins up with, or binds itself to, the copper, thus removing it from the organs, and delivers it into the bloodstream, from where it is then filtered out by the kidneys and excreted into the urine. There are three commonly used chelating agents: Penicillamine, Trientine and Tetrathiomolybdate.
Zinc acetate is also used. It is not a chelating drug. Zinc helps prevent copper from being absorbed from the gut. It is slower to give a therapeutic effect than the chelating drugs.
Maintenance therapy begins once the symptoms have improved, and tests show that copper has been reduced to safe levels. This includes zinc and low dose penicillamine.
Liver transplant is a last resort treatment in those with advanced chronic liver disease.
Dietary Control of Copper Intake
People with Wilson disease must reduce their dietary copper intake.
The following foods contain copper:
- Seafoods, such as oysters, squid (calamari), lobster, mussels, crab and clams
- Organ meats, such as liver, kidney and heart
- Whole grains (as in breads and cereals)
- Dark green leafy vegetables
- Legumes, such as soybeans, lentils and peanuts
- Nuts and nut butters
- Vegetables including potatoes, sweet potatoes
- Fruits, such as bananas, grapes and avocado
- Dried fruits
Shellfish, liver and other organ meats have especially high levels of copper and must be avoided completely for life. Other foods such as mushrooms, nuts and chocolate should be completely excluded in the initial phase of treatment, but may be take in moderation in the maintenance phase. The other foods listed above should only be eaten in moderation.
Drinking water should be checked for the presence of copper. If present, the water must be filtered, or bottled water only consumed.
Vitamin supplements should be checked, as many contain copper.
In the presence of liver damage, alcohol should not be consumed.
Copper as a trace element is essential to health (see my January 2013 newsletter Copper and Health).
Wilson disease results in excess accumulation of copper in the body which, if not treated, can be fatal. If this condition is detected (diagnosed) early and treated effectively, people with Wilson disease can enjoy good health and normal life expectancy.
*Copyright 2013: The Huntly Centre.
Disclaimer: All material in the huntlycentre.com.au website is provided for informational or educational purposes only. Consult a health professional regarding the applicability of any opinions or recommendations expressed herein, with respect to your symptoms or medical condition.
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