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Information about Wilson Disease

About Wilson Disease

Wilson disease (WD) is a genetic disease that prevents the body from properly transporting copper in the body and removing excess copper from the body. Without effective treatment copper will build up in tissues of the body, including the liver and central nervous system.1

Copper enters our body from the food we eat and although the body needs copper for our cells to work properly, a normal diet contains more copper than the body needs.

In people without Wilson disease, the liver processes the necessary amount and excretes the excess copper into bile, which is then removed from the body in faeces.1

About 1 in every 30,000 people worldwide has a genetic mutation that affects the important copper transport mechanisms causing Wilson disease.

There are many different mutations but all affect a gene on chromosome 131,3 that codes for the ATP7B protein. The ATP7B is responsible for ensuring copper gets safely transported around the body as well as removing excess copper from the body1.

Wilson disease is an autosomal recessive genetic disorder, which means that for a

person to have Wilson disease will had to have inherited 2 mutated genes (on each copy of chromosome 13), 1 from each parent.4

Wilson disease can be effectively treated with a low copper diet and medicines that bind to copper and carry it out of the body as in this way copper levels within the body are managed.1,5

References

1. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111.
2. Desai V, Kaler SG. Role of copper in human neurological disorders. Am J Clin Nutr. 2008;88(suppl):855S-858S.
3. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.
4. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson Disease.VIEW. Accessed May 25, 2016.
5. Wilson Disease Association. Treatment of Wilson Disease. VIEW. Accessed July 1, 2016.

How do I know if I have Wilson Disease?

Age of OnsetUsually 5-35 years old (or younger if through screening) – Younger individuals may not show any symptoms while older people are more likely to have neurological problems, as well as liver defects.
Signs and symptomsThe liver is usually affected first, but if Wilson disease is not diagnosed and treated, copper may accumulate and damage other areas of the body. Some people will have nervous system problems without obvious symptoms of liver disease.
DiagnosisBlood and urine tests | Eye Exam | Liver Biopsy | Brain scan such as MRI | Genetic testing for ATP7B mutations
TreatmentChelating and zinc medications | Dietary changes

Children younger than 2 years of age and adults older than 70 years have been diagnosed with Wilson disease (WD), but the disease is usually diagnosed between the ages of 5 and 35 years1, if not picked up through genetic screening that may occur if a family member has already been diagnosed with Wilson disease.

Younger individuals may not show any symptoms, while older people are more likely to have neurological problems, as well as liver defects.1

SIGNS & SYMPTOMS
SIGNS & SYMPTOMS
Presentation of Wilson disease is different for each person. It usually affects the liver first, but if it’s not diagnosed and treated, the excess copper travels through the bloodstream to other areas of the body.
DIAGNOSIS
DIAGNOSIS
Wilson Disease (WD) can be fatal if it is not treated. Once the disease is diagnosed and treated, people with well-managed Wilson disease can expect a normal lifespan.
TREATMENT
TREATMENT
Medications approved for the treatment of Wilson disease include chelating agents and zinc. Chelating agents remove copper from the organs where it has built up and pull it into the bloodstream.

Signs and Symptoms

Presentation of Wilson disease is different for each person.

It usually affects the liver first, but if it’s not diagnosed and treated, the excess copper travels through the bloodstream to other areas of the body, where it can build up and damage the nervous system, eyes, kidneys, bones, heart, and other systems.

The disease can also affect mood and behavior.1

Liver Disease

Some people with Wilson disease may be asymptomatic, with only relatively minor biochemical abnormalities.1 Other people may have clear evidence of chronic and/or severe liver disease.

Symptoms of liver disease include3:

  • Weakness
  • Fatigue or feeling tired
  • Loss of appetite
  • Nausea
  • Vomiting
  • Itching
  • Weight loss
  • Pain and bloating from fluid accumulating in the abdomen
  • Edema (swelling), usually in the legs, feet, or ankles and less often in the hands or face
  • Spiderlike blood vessels, called spider angiomas near the surface of the skin
  • Muscle cramps
  • Jaundice, a condition in which the skin and whites of the eyes turn yellow

Diagnostic tests may reveal1:

  • Consistently high serum aminotransferase activity (aspartate transaminase, alanine transaminase) – these are blood tests that measure the health of your liver
  • Asymptomatic hepatomegaly, in which your liver is larger than normal
  • Isolated splenomegaly, in which your spleen is larger than normal
  • Fatty liver
  • Acute hepatitis, which may give you a fever and jaundice (yellowed skin and eyes)
  • Signs of autoimmune hepatitis
  • Cirrhosis (compensated or decompensated), a serious form of liver damage
  • Acute liver failure

Neurological Disease

A build-up of copper in the nervous system can damage the nervous system’s ability to control muscles, and it can also cause other problems.1Although liver disease usually occurs first in Wilson disease, some people will have nervous system problems without clear symptoms of liver disease.2

Neurological symptoms include1,2:

  • Tremors or uncontrolled movements
  • Problems with physical coordination
  • Muscle stiffness
  • Problems with speech
  • Drooling or difficulty swallowing
  • Migraines
  • Trouble Sleeping
  • Seizures

Mental Health Disorders

Altered brain function due to excess copper in the central nervous system can also lead to changes in mood or behavior. Mental health symptoms may include1,2:

  • Personality changes
  • Depression
  • Anxiety or nervous feelings about most things
  • Psychosis, which is when a person loses touch with reality

Other Toxic Effects

A build-up of copper in the body may also result in the following1,2:

  • Kayser-Fleischer rings – rusty brown rings around the edge of the iris (the coloured part of the eye) and in the rim of the cornea; these are almost always present in people with neurological Wilson disease symptoms, but only about 40%-66% of people with liver symptoms alone have them
  • Anaemia – the body has fewer or smaller red blood cells than normal, which reduces the amount of oxygen that reaches the body’s cells
  • Arthritis – pain or swelling in 1 or more joints
  • High levels of amino acids, protein, uric acid, and carbohydrates in the urine
  • Low platelet or white blood cell count
  • Osteoporosis – the bones become less dense and are more likely to fracture
  • Sunflower cataracts – sunflower-shaped clouding over the eye’s lens, which does not usually interfere with vision
  • Lunuale cerueae – a blue color appearing at the base of the fingernails
  • Heart problems
  • Pancreas problems
  • Reduced thyroid function
  • Menstrual irregularities (unpredictable periods), infertility, and multiple miscarriages

How is Wilson Disease diagnosed?

If you have any of these symptoms or show any of the signs described in the previous section, it’s important to see your doctor right away.

Wilson Disease (WD) will be fatal if it is not effectively treated. Once the disease is diagnosed and treated, people with well-managed Wilson disease can expect a normal lifespan, and the earlier it is diagnosed, the better.3

Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose Wilson disease.

Some signs and symptoms, such as Kayser-Fleischer rings, when they occur with liver and neurological disease, are enough to make the diagnosis in advanced cases, but healthcare professionals will usually need blood tests and maybe a liver biopsy to confirm Wilson disease.1

Genetic testing for ATP7B mutations is also be helpful to diagnose Wilson disease, and is often used to identify family members who might also have Wilson disease before any symptoms occur or could be Wilson disease carriers (meaning they have a Wilson disease mutation on 1 but not both copies of chromosome 13).1

Tests healthcare professionals might perform include

  • Blood and urine tests to measure
  • Urine levels of copper (may also be used to monitor the effectiveness of treatments); the amount of copper in the urine is decreased in Wilson disease
  • Blood levels of ceruloplasmin, the major copper-carrying protein in the blood, are often low in people with Wilson disease, although other conditions can also cause low levels1
  • Liver enzyme activity, which is usually mildly elevated in people with Wilson disease1
  • Eye exam to detect Kayser-Fleischer rings1
  • Liver biopsy to determine the amount of copper in liver tissues; the diagnosis is confirmed if copper levels are > 250 μg/g of liver1
  • Detect steatosis, or fatty liver1
  • Brain scans such as computed tomography and magnetic resonance imaging to detect brain abnormalities in those with neurological or psychiatric symptoms1
  • Genetic testing to detect mutations of the ATP7B gene; more than 500 mutations have been identified1,3

References

1. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson disease: an update.Hepatology. 2008;47(6):2089-2111.
2. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson disease. VIEW. Accessed May 25, 2016.
3. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.

What are my treatment options?

Medications approved for the treatment of Wilson disease include chelating agents and zinc. Chelating agents remove copper from the tissues, organs and the bloodstream by tightly binding to the copper. The copper-chelator complex is then removed from the body via excretion in the urine. Zinc blocks absorption of copper from food in the digestive tract, but it does not help remove excess copper if it has already been absorbed.2

For patients with symptoms, treatment with medications usually occurs in 2 phases:

GMP-Orphan - GMPO - 2-6 Months

Phase 1

Remove copper from the organ(s) where it has built up through use of chelating agents (trientine or penicillamine).

GMP-Orphan - GMPO - Lifelong

Phase 2

Maintain copper levels within acceptable levels. Chelating agents (trientine or penicillamine) or zinc therapy can be used.

Diet and Nutrition

Copper enters our bodies through the food we eat and the water we drink, which is important because our bodies need copper to function.3 However, when you have Wilson disease and your body can’t rid itself of excess copper, it’s important to limit your copper intake by avoiding foods with a high copper content.

Foods you should avoid (or limit) include4:

  • Shellfish
  • Nuts
  • Chocolate
  • Mushrooms
  • Organ meat (eg, liver paté, tripe, sweetbreads)
Water

People with Wilson disease should also avoid using copper containers for cooking, serving, or storing food2

If your tap water runs through copper pipes or comes from a well, be sure to run the water for a while before using, as this should reduce any copper residues to acceptable levels2

Vitamins and Dietary Supplements

Talk to your doctor before taking a multivitamin, and if he or she approves, ask your pharmacist to recommend one that does not contain copper5

If you are a woman who is pregnant or is planning to become pregnant, you should ask your obstetrician to consult with your Wilson disease specialist before prescribing prenatal vitamins5

Many prenatal vitamins contain a lot of copper and it’s important to find a brand that does not5

You and your doctor should also discuss any other dietary supplements or herbal preparations you are taking, or would like to take, to make sure they will not interact with your medications or worsen problems in your liver.5

Mineral supplements in particular can block absorption of SYPRINE® and should not be taken unless your doctor prescribes 1 for a specific problem, such as anaemia due to low iron.6 It is essential to follow your healthcare professional’s advice when it comes to any potential sources of copper or drug interactions that could be harmful to you.

References

1. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.
2. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson Disease. VIEW. Accessed May 25, 2016.
3. Desai V, Kaler SG. Role of copper in human neurological disorders. Am J Clin Nutr. 2008;88(suppl):855S-858S.
4. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111.
5. Wilson Disease Association. Diet and nutrition. VIEW. Accessed July 1, 2016.
6. Syprine [package insert]. Bridgewater, NJ: Valeant Pharmaceuticals North America LLC; 2014.

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