Find information on thousands of medical conditions and prescription drugs.

Wilson's disease

Wilson's disease or lentigohepatic degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. Its main feature is accumulation of copper in tissues, which manifests itself with neurological symptoms and liver disease. The estimated heterozygous carrier rate is about 1 in 90, meaning that 1 in 90 people are unaffected carriers of this mutation. The disease affects men and women equally and occurs in all races. more...

Waardenburg syndrome
Wagner's disease
WAGR syndrome
Wallerian degeneration
Warkany syndrome
Watermelon stomach
Wegener's granulomatosis
Weissenbacher Zweymuller...
Werdnig-Hoffmann disease
Werner's syndrome
Whipple disease
Whooping cough
Willebrand disease
Willebrand disease, acquired
Williams syndrome
Wilms tumor-aniridia...
Wilms' tumor
Wilson's disease
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolman disease
Wooly hair syndrome
Worster-Drought syndrome
Writer's cramp


The Wilson's disease gene (WND) has been mapped to chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta but has also been found in the heart, brain, and lung, albeit at much lower levels. The gene codes for a P-type ATPase that transports copper into bile and incorporates it into ceruloplasmin. Bile is a liquid produced by the liver that helps with digestion.

The mutant form of WND expressed in people with Wilson's disease inhibits the release of copper into bile. As the excretion of copper from the body is thus impaired, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

Symptoms and signs

Symptoms usually appear between the ages of 6 and 20 years, but sometimes not until the age of 30, and in rare instances up to age 50. The most classical sign are the Kayser-Fleischer rings (brown rings around the cornea in the eye) that result from copper deposition in Descemet's membrane of the cornea. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. Many signs would be detected only by a doctor, like swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.

Clinical features

Clinical symptoms rarely develop before 5 years of age, despite the biochemical defect being present at birth. The average concentration of hepatic copper may reach 20 times normal levels, whilst plasma ceruloplasmin levels are typically less than 30% of normal.

The age of presentation seems to correlate with the organ system involved. About half (40–50%) of patients first present with hepatic symptoms and half (40–50%) with neurologic symptoms. The average age for hepatic symptoms is 10–14 years, compared with 19–22 years for neurologic symptoms. Patients rarely present after age 40.


  • Chronic active hepatitis, culminating in cirrhosis
  • Fulminant liver failure


  • Cognitive impairment
  • Mood disorder
  • Psychosis


[List your site here Free!]

Wilson's disease
From Gale Encyclopedia of Medicine, 4/6/01 by Rosalyn S. Carson-DeWitt


Wilson's disease is a rare, inherited disease that causes the body to retain copper. Steadily increasing amounts of copper circulating in the blood are deposited throughout the body in abnormal locations, including in the brain, liver, kidneys, and the cornea of the eyes.


Under normal conditions, copper that finds its way into the body through the diet is processed within the liver. This processed form of copper is then passed into the gallbladder, along with the other components of bile (a fluid produced by the liver, which enters the small intestine in order to help in digestive processes). When the gallbladder empties its contents into the the first part of the small intestine (duodenum), the copper in the bile enters and passes through the intestine with the waste products of digestion. Copper is then passed out of the body in stool.

In Wilson's disease, copper does not pass from the liver into the bile, but rather begins to accumulate within the liver. As copper levels rise in the liver, the damaged organ begins to allow copper to flow into the bloodstream, where it circulates. Copper is then deposited throughout the body, building up, in particular, in the kidneys, the brain and nervous system, and the eyes. Wilson's disease, then, is a disorder of copper toxicity.

Causes & symptoms

Wilson's disease is an inherited disorder, passed in families as a recessive trait (meaning that an individual must receive a defective gene from both his or her mother and father in order to actually have symptoms of the disease). The gene defect is believed to result in an abnormal protein within liver cells that binds to copper, retaining it in the liver. Patients with Wilson's disease also frequently have decreased amounts of a protein, called ceruloplasmin, that carries copper through the bloodstream.

Signs of copper toxicity begin to display themselves between the ages of 5 and 20, with adolescence being the most common time period for diagnosis. Occasionally, individuals have been as old as 50 years before their symptoms have led to diagnosis.

About half of all patients experience their first symptoms in the liver. The illness causes swelling and tenderness of the liver, sometimes with fever, mimicking more common disorders, such as viral hepatitis and infectious mononucleosis. Abnormal levels of circulating liver enzymes reveal that the liver is being seriously damaged. This form of damage is referred to as "fatty degeneration." Without medical intervention, the liver damage will progress to actual cirrhosis. An often fatal manifestation of liver disease is called "fulminant hepatitis." This extremely severe inflammation of the liver (hepatitis) results in jaundice, fluid leaking into the abdomen, low protein circulating in the blood, abnormalities of the blood clotting system, swelling of the brain, and anemia due to the abnormal destruction of red blood cells.

Half of all patients experience their first symptoms due to deposits of copper in the brain and nervous system. These symptoms include tremors, uncontrollable movements of the limbs, stiffness, drooling, difficulty swallowing, difficulty talking, and headache. Many patients have a variety of psychiatric symptoms, suddenly displaying bizarre and inappropriate behavior, with deterioration of functioning at work or school.

A very small percentage of women have symptoms involving their reproductive systems. Some females never begin to have menstrual periods, while others stop having them. Still other women experience multiple miscarriages of pregnancies.


Because Wilson's disease is so rare, diagnosis is often unfortunately delayed. Physical examination will reveal a unique, characteristic ring of copper deposited in a membrane of the cornea (referred to as Kayser-Fleischer rings). Laboratory examination of the blood will reveal low levels of ceruloplasmin, a glycoprotein in the blood. Liver biopsy will reveal a high concentration of copper. Most medical criteria state that any combination of two of these signs (presence of Kayser-Fleischer rings, low ceruloplasmin, high concentration of copper in liver) is sufficient for a diagnosis of Wilson's disease. Other tests are also useful, for example measuring the quantity of copper passed into the urine daily (high in Wilson's disease). Another lab test measures the ability of a sample of a patient's ceruloplasmin to bind with a form of copper (decreased in Wilson's disease).


Treatment involves life-long administration of either D-penicillamine (most commonly) or trientine hydrochloride. Both of these drugs remove copper deposits throughout the body, and bind to the copper to decrease its toxic effects.

Penicillamine has a number of serious side effects:

  • Joint pain
  • Neurological problems
  • Systemic lupus erythematosus
  • Decreased production of all blood elements
  • Interference with clotting
  • Allergic reactions.

Careful monitoring is necessary. When patients have side effects from penicillamine, the dose can sometimes be lowered to an effective level that causes fewer difficulties. Alternatively, steroid medications may be required to reduce certain sensitivity reactions. Trientine has fewer potential side effects, but must still be carefully monitored.


Without treatment, Wilson's disease is always fatal. With treatment, symptoms may continue to worsen for the first six to eight weeks. After this time, definite improvement should begin to be seen. However, it may take several years (two to five) of treatment to reach maximal benefit to the brain and liver. Even then, many patients are not returned to their original level of functioning. Interruptions in treatment can result in a relapse of the disease which is not reversible, and can ultimately lead to death.

Key Terms

A substance produced by the liver, and concentrated and stored in the gallbladder. Bile contains a number of different substances, including bile salts, cholesterol, and bilirubin. After a meal, the gallbladder pumps a quantity of bile into the duodenum, to keep the intestinal contents at a pH optimal for digestion, and to help breakdown fats.
A protein circulating in the bloodstream that binds with copper and transports it.

A liver disorder most common among alcoholics, in which the structure of the liver is permanently destroyed and distorted by swelling and fibrous scar tissue formation.
A small, pear-shaped organ in the upper right hand corner of the abdomen. It is connected by a series of ducts (tube-like channels) to the liver, pancreas, and duodenum (first part of the small intestine). The gallbladder receives bile from the liver, and concentrates and stores it. After a meal, bile is squeezed out of the gallbladder into the intestine, where it aids in digestion of food.
An inflammation of the liver that can be caused by viruses or exposure to toxic agents.

Further Reading

For Your Information


  • Scheinberg, I. Herbert. "Wilson's Disease." In Harrison's Principles of Internal Medicine, 14th ed., edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998.


  • Hariharan, Ramesh, and L. Fred Herbert. "Wilson's Disease." Hospital Practice 31(August 15, 1996): 556+.


  • American Liver Foundation. 1425 Pompton Avenue, Cedar Grove, NJ 07009. (800) 465-4837 or (888) 443-7222.
  • Wilson's Disease Association. 4 Navaho Drive, Brookfield, CT 06804. (800) 399-0266.

Gale Encyclopedia of Medicine. Gale Research, 1999.

Return to Wilson's disease
Home Contact Resources Exchange Links ebay