Wilson's disease is a rare genetic disorder caused by the accumulation of copper throughout the body.
In the human body, copper plays an important role in the development of healthy bones, nerves, collagen and the skin pigment melanin. Copper is normally absorbed from food and excess copper is excreted through bile. Bile is produced by the liver and carries toxins and waste away from the body, through the digestive system.
In people with Wilson's disease, there is a defective enzyme that results in excess copper not being removed. Instead, it leaves the bloodstream and accumulates in various organs and structures including the liver, brain, spinal cord, eyes and kidneys. About 50% of people diagnosed with Wilson's disease have symptoms that are localized to just their liver.
Copper is toxic in large amounts. As tissues become damaged by the build-up of copper, the healthy tissue is replaced by scar tissue, which cannot perform the normal functions of the organ involved and the organ ceases to work properly.
Wilson's disease affects around one in every 30,000 people. It cannot be cured, but can be very well managed if diagnosed early. The copper accumulation starts from birth, but symptoms can take many years to become apparent. It is typically diagnosed in people between 5-35 years of age and affects men and women equally.
A fluid made in the liver and stored in the gall bladder.
The flow of blood within the blood vessels of the circulatory system.
A protein that is the main component of various connective tissues.
Molecules (mainly proteins) produced by cells that can drive specific chemical reactions.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
The pigment responsible for the color of the skin, hair and the iris of the eye.
A bundle of nerve tissue that runs from the brain through the spinal column and connects the brain to the body, transmitting sensory and motor signals.
People have two copies of most genes and inherit one copy from each parent. A genetic disease occurs when one or both parents pass on a mutated gene to a child at conception. In Wilson's disease, a child inherits a copy of the genetic mutation from both their parents.
The gene responsible for Wilson's disease is called ATP7B. When this gene is mutated, excess copper cannot be moved from the liver effectively.
About one in 100 people are carriers of the ATP7B gene. Carriers of the gene do not become ill and do not need medical treatment. When both parents of a child carry it, there is a:
A unit of inheritance (heredity) of a living organism. A segment of genetic material, typically DNA, that specifies the structure of a protein or related molecules. Genes are passed on to offspring so that traits are inherited, making you who you are and what you look like.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
The symptoms experienced by people with Wilson's disease may vary, depending on which organs are affected by the copper accumulation.
Although the condition is present at birth, the symptoms do not become apparent until the copper has accumulated in the organs. Some people diagnosed with Wilson's disease may not even have any symptoms; instead, their condition is discovered during routine physical examinations or laboratory tests.
Liver symptoms are typically the first to develop. The toxic effects of the copper on the liver cells may cause:
Some people with Wilson's disease may not develop any symptoms until their condition has reached the stage of acute liver failure, which can develop very suddenly.
Symptoms that affect the central nervous system and mental health often appear once the liver has accumulated a lot of copper.
These symptoms are more often apparent in adults, but can occur in children and include:
A deficiency in red blood cells or hemoglobin in the body.
A feeling of tension, nervousness and dread about future events. It can trigger physical symptoms such as a rapid pulse or breathing difficulties.
The part of the body's nervous system that includes the brain and the spinal cord.
A state of exhaustion and weakness.
A yellowing of the skin, the whites of the eyes and the mucous membranes, due to an accumulation of bilirubin in the blood. Often a symptom of liver problems.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
A sensation of sickness and unease, typically felt in the stomach, often accompanied by the urge to vomit. Nausea is a common symptom with many possible causes.
An abnormal mental state characterized by a loss of contact with reality.
Ejecting the contents of the stomach through the mouth.
Your doctor will ask about your medical history and symptoms and will perform a thorough physical examination.
When there is an established family history of Wilson's disease, early diagnosis can prevent symptoms and potential organ damage. If a relative has previously been diagnosed with Wilson's disease, genetic testing may be an option, but as there are many mutations that can cause the condition, there is no single test that is appropriate for everyone.
Blood tests are used to assess the function of the liver and to measure the levels of red blood cells, white blood cells and platelets. People with Wilson's disease will typically have an abnormal liver function test result and low blood count levels.
Since the copper is deposited into the organs and not circulating in the blood, most people with Wilson's disease actually have a lower-than-normal level of copper in their blood.
Ceruloplasmin is a protein that carries copper in the bloodstream. Most people with Wilson's disease have a lower-than-normal level of this protein in their blood.
People with Wilson's disease have abnormally high levels of copper in their urine.
A doctor will use a microscope with a high-intensity light source to check eyes for Kayser-Fleischer rings. Wilson's disease is also associated with a specific type of cataract, called a sunflower cataract, which may also be apparent on examination.
To exclude other possible conditions that may be causing neurological symptoms, diagnosis may include imaging scans of the head such as magnetic resonance imaging (MRI) or computerized tomography (CT).
To assess damage to the liver and measure the amount of copper that has accumulated, a small sample of liver tissue may be removed (biopsied) for further testing.
During a blood test, blood can be drawn using a needle or by a finger prick. Your blood can then be analyzed to help diagnose and monitor a wide range of health conditions.
The flow of blood within the blood vessels of the circulatory system.
A clouding of the lens of the eye.
A scan that uses X-rays to create a 3D image of the body. This can detect abnormalities more effectively than a simple X-ray can.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
A type of imaging that uses a magnetic field and low-energy radio waves, instead of X-rays, to obtain images of organs.
An inheritable change in the base sequence of the genome of an organism.
Of the nervous system, including the brain.
Small blood cells found in the blood that are essential for clotting to occur.
1. One of the three macronutrients in foods that supply the body with energy. Food rich in proteins include meats, legumes and dairy foods. 2. Large molecules, such as antibodies and albumin, that are found in the blood.
Cells in the blood that transport oxygen from the lungs throughout the body and carbon dioxide from the body to the lungs.
The yellowish fluid made by the kidneys and moved via the urinary tract out of the body. It contains waste products, excess water and electrolytes.
The aim of treatment is to reduce the amount of copper in the body and to control any symptoms. Treatment is lifelong and delays in starting treatment can potentially cause irreversible damage.
Zinc increases the levels of an intestinal protein called metallothionein, which has a high affinity for copper. The metallothionein reduces the absorption of copper and increases its excretion. Zinc can cause an upset stomach for some people.
Copper chelation therapy prompts organs to release copper into the bloodstream, which is then filtered by the kidneys and released into urine.
D-penicillamine is often the primary medication for copper chelation, but it commonly causes side effects such as skin problems, bone marrow suppression and worsening of neurological symptoms.
Trientine works similarly to D-penicillamine, but has fewer associated side effects.
Vitamin B6 supplements may help ease nervous system symptoms.
Potassium supplements can reduce absorption of dietary copper.
People with Wilson's disease may be advised to follow a diet that is low in copper, which may include avoiding chocolate, dried beans, dried fruits, mushrooms, nuts, offal, peas, shellfish and wholewheat products. People with poor liver function may be advised to avoid excess alcohol consumption.
A liver transplantation may be considered when there is severe liver damage, acute liver failure, or when no other treatment options have proved effective.
The flow of blood within the blood vessels of the circulatory system.
The spongy, vascular or fatty tissue found inside bones, responsible for producing blood cells.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
Of the nervous system, including the brain.
1. One of the three macronutrients in foods that supply the body with energy. Food rich in proteins include meats, legumes and dairy foods. 2. Large molecules, such as antibodies and albumin, that are found in the blood.
The yellowish fluid made by the kidneys and moved via the urinary tract out of the body. It contains waste products, excess water and electrolytes.
A water-soluble compound and major mineral that is essential for maintaining contractions of muscles, including the heart.
Without medical treatment, complications of Wilson's disease can include:
A deficiency in red blood cells or hemoglobin in the body.
Scarring of liver tissue, which the irreversible replacement of normal liver cells by fibrous cells. Cirrhosis is the result of chronic liver damage.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
An organ in the abdominal cavity that is involved in filtering out old blood cells and fighting infection.
Wilson's disease cannot be cured, but with proper management, a person with Wilson's disease can usually live a normal life. However, people who have advanced Wilson's disease, or rapidly progressive liver failure, can expect serious health consequences.
A large, internal organ of the body, located on the upper right-hand side of the abdomen. The liver has hundreds of distinct functions, including producing bile, regulating the body's metabolism and detoxifying the blood.
Wilson's disease cannot be prevented, but those with a family history may benefit from being tested for the disease before symptoms appear, as an early diagnosis can reduce or prevent organ damage.