Wilson's disease
Definition:
Wilson's disease is an inherited disorder that causes too much copper to
accumulate in your liver, brain and other vital organs. Another term
for Wilson's disease is hepatolenticular degeneration.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
Symptoms:
Wilson's disease causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson's disease.
Signs and symptoms of Wilson's disease include:
Make an appointment with your doctor if you have any signs and symptoms that worry you.
If a family member has been diagnosed with Wilson's disease, tell your doctor at your next appointment. Your doctor may recommend tests to determine whether you may have Wilson's disease.
Causes:
Wilson's disease occurs when a genetic mutation leads to an accumulation of copper in your body.
How the genetic mutation occurs
The genetic mutation that causes Wilson's disease is most commonly passed from one generation to the next. Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.
How the genetic mutation causes Wilson's disease
The mutation that causes Wilson's disease causes problems with a protein that's responsible for moving excess copper out of your liver.
Your body collects copper from the food you eat during the digestive process. The copper is transported to your liver where liver cells use it for everyday tasks. Most people eat more copper than they need. In these cases, the liver takes what it needs and excretes the rest in bile, a digestive juice made by the liver.
But in people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
Complications:
Wilson's disease can cause serious complications such as:
If you've been diagnosed with Wilson's disease, your doctor may recommend medications to reduce the amount of copper in your body. Once that is achieved, treatment focuses on preventing copper from building up again. When liver damage is severe, a liver transplant may be necessary.
Medications that remove excess copper from your body
Medications called chelating agents prompt your organs to release copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Treatment for people with signs and symptoms of Wilson's disease usually begins with a chelating agent. Once your signs and symptoms are under control, your doctor may recommend a lower dose of medication to maintain a safe level of copper in your body.
Doctors sometimes also recommend chelating agents to people who've been diagnosed with Wilson's disease but don't have signs and symptoms. For these people, a chelating agent can reduce the risk of liver damage.
Side effects of chelating agents depend on the specific medication:
Zinc acetate prevents your body from absorbing copper from the food you eat. Zinc is sometimes used in people who've had successful treatment with a chelating agent. In these people, zinc may help maintain a healthy copper level. Zinc is also used in people who've been diagnosed with Wilson's disease but don't have any signs or symptoms.
Zinc acetate causes few side effects but can cause upset stomach.
Liver transplant
For people with severe liver damage, a liver transplant may be necessary. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor. Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of your family member's liver.
Definition:
Wilson's disease is an inherited disorder that causes too much copper to
accumulate in your liver, brain and other vital organs. Another term
for Wilson's disease is hepatolenticular degeneration.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
Symptoms:
Wilson's disease causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson's disease.
Signs and symptoms of Wilson's disease include:
- Clumsiness
- Depression
- Difficulty speaking
- Difficulty swallowing
- Difficulty walking
- Drooling
- Easy bruising
- Fatigue
- Involuntary shaking
- Joint pain
- Loss of appetite
- Nausea
- Skin rash
- Swelling of arms and legs
- Yellowing of the skin and eyes (jaundice)
Make an appointment with your doctor if you have any signs and symptoms that worry you.
If a family member has been diagnosed with Wilson's disease, tell your doctor at your next appointment. Your doctor may recommend tests to determine whether you may have Wilson's disease.
Causes:
Wilson's disease occurs when a genetic mutation leads to an accumulation of copper in your body.
How the genetic mutation occurs
The genetic mutation that causes Wilson's disease is most commonly passed from one generation to the next. Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.
How the genetic mutation causes Wilson's disease
The mutation that causes Wilson's disease causes problems with a protein that's responsible for moving excess copper out of your liver.
Your body collects copper from the food you eat during the digestive process. The copper is transported to your liver where liver cells use it for everyday tasks. Most people eat more copper than they need. In these cases, the liver takes what it needs and excretes the rest in bile, a digestive juice made by the liver.
But in people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
Complications:
Wilson's disease can cause serious complications such as:
- Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver. The scar tissue makes it more difficult for the liver to function.
- Liver failure. Liver failure can occur suddenly (acute liver failure), or it can develop slowly over many years. If liver failure progresses, a liver transplant may be a treatment option.
- Liver cancer. Damage to the liver caused by Wilson's disease may increase the risk of liver cancer.
- Persistent neurological problems. Neurological problems usually improve with treatment for Wilson's disease. However, some people may experience persistent neurological difficulty despite treatment.
- Kidney problems. Wilson's disease can damage the kidneys, leading to kidney problems such as kidney stones and an abnormal number of amino acids excreted in the urine (aminoaciduria).
If you've been diagnosed with Wilson's disease, your doctor may recommend medications to reduce the amount of copper in your body. Once that is achieved, treatment focuses on preventing copper from building up again. When liver damage is severe, a liver transplant may be necessary.
Medications that remove excess copper from your body
Medications called chelating agents prompt your organs to release copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Treatment for people with signs and symptoms of Wilson's disease usually begins with a chelating agent. Once your signs and symptoms are under control, your doctor may recommend a lower dose of medication to maintain a safe level of copper in your body.
Doctors sometimes also recommend chelating agents to people who've been diagnosed with Wilson's disease but don't have signs and symptoms. For these people, a chelating agent can reduce the risk of liver damage.
Side effects of chelating agents depend on the specific medication:
- Penicillamine (Cuprimine, Depen). Penicillamine can cause serious side effects, including skin problems, bone marrow suppression, worsening of neurological symptoms and birth defects.
- Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, there is a risk that neurological symptoms can worsen when taking trientine, though it's thought to be a lower risk than is penicillamine.
Zinc acetate prevents your body from absorbing copper from the food you eat. Zinc is sometimes used in people who've had successful treatment with a chelating agent. In these people, zinc may help maintain a healthy copper level. Zinc is also used in people who've been diagnosed with Wilson's disease but don't have any signs or symptoms.
Zinc acetate causes few side effects but can cause upset stomach.
Liver transplant
For people with severe liver damage, a liver transplant may be necessary. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor. Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of your family member's liver.
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