Wilson's disease

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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

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)

Complications

* 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 function
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).


Test and procedures used to diagnose Wilson's disease include:

* Blood and urine tests.
* Brain scans.
* Eye exam.
* Removing a sample of liver tissue for testing.
* Genetic testing.

Treatment

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.

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.

Medication to maintain healthy copper levels
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.

Lifestyle
Limiting the amount of copper you consume in your diet during the
first year of your treatment for Wilson's disease.

Copper-containing foods
Foods that contain high levels of copper include:

* Copper-containing vitamin and mineral supplements
* Liver
* Shellfish
* Mushrooms
* Nuts
* Chocolate
* Dried fruit
* Dried peas, beans and lentils
* Avocados
* Bran products

Copper pots and pans
Don't use copper pots, pans or storage containers for your food or
drinks.

Source: Mayo Clinic