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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...

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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


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From Gale Encyclopedia of Medicine, 4/6/01 by Maureen Haggerty


Cirrhosis is a chronic, degenerative disease in which normal liver cells are damaged and are then replaced by scar tissue.


Cirrhosis changes the structure of the liver and the blood vessels that nourish it. The disease reduces the liver's ability to manufacture proteins and process hormones, nutrients, medications, and poisons.

Cirrhosis gets worse over time and can become potentially life threatening. This disease can cause:

  • Excessive bleeding (hemorrhage)
  • Impotence
  • Liver cancer
  • Coma due to accumulated ammonia and body wastes (liver failure)
  • Death.

Cirrhosis is the seventh leading cause of disease-related death in the United States. It is twice as common in men as in women. The disease occurs in more than half of all malnourished chronic alcoholics and kills about 25,000 people a year. It is the third most common cause of death in adults between the ages of 45-65.

Types of cirrhosis

Portal or nutritional cirrhosis is the form of the disease most common in the United States. About 30-50% of all cases of cirrhosis are this type. Nine out of every 10 people who have nutritional cirrhosis have a history of alcoholism. Portal or nutritional cirrhosis is also called Laënnec's cirrhosis.

Biliary cirrhosis is caused by intrahepatic bile-duct diseases that impede bile flow. Bile is formed in the liver and is carried by ducts to the intestines. Bile then helps digest fats in the intestines. Biliary cirrhosis can scar or block these ducts. It represents 15-20% of all cirrhosis.

Various types of chronic hepatitis, especially hepatitis B and hepatitis C, can cause postnecrotic cirrhosis. This form of the disease affects up to 40% of all patients who have cirrhosis.

Disorders like the inability to metabolize iron and similar disorders may cause pigment cirrhosis (hemochromatosis), which accounts for 5-10% of all instances of the disease.

Causes & symptoms

Long-term alcoholism is the primary cause of cirrhosis in the United States. Men and women respond differently to alcohol. Although most men can safely consume two to five drinks a day, one or two drinks a day can cause liver damage in women. Individual tolerance to alcohol varies, but people who drink more and drink more often have a higher risk of developing cirrhosis. In some people, one drink a day can cause liver scarring.

Chronic liver infections like hepatitis B and particularly hepatitis C are commonly linked to cirrhosis. People at high risk of contracting hepatitis B include those exposed to the virus through contact with blood and body fluids. This includes healthcare workers and intraveneous (IV) drug users. People in the past have contracted hepatitis C through blood transfusions.

Liver injury, reactions to prescription medications, exposure to toxic substances, and repeated episodes of heart failure with liver congestion can cause cirrhosis. The disorder can also be a result of diseases that run in families (inherited diseases) like:

  • A lack of a specific liver enzyme (alpha1-antitrypsin deficiency)
  • The absence of a milk-digesting enzyme (galactosemia)
  • An inability to convert sugars to energy (glycogen storage disease)
  • An absorption deficit in which excess iron is deposited in the liver, pancreas, heart, and other organs (hemochromatosis)
  • A disorder characterized by accumulations of copper in the liver, brain, kidneys, and corneas (Wilson's disease).

Poor nutrition increases a person's risk of developing cirrhosis. In about 10 out of every 100 patients, the cause of cirrhosis cannot be determined. Many people who have cirrhosis do not have any symptoms (often called compensated cirrhosis). Their disease is detected during a routine physical or when tests for an unrelated medical problem are performed. This type of cirrhosis can also be detected when complications occur (decompensated cirrhosis).

Symptoms of cirrhosis are usually caused by the loss of functioning liver cells or organ swelling due to scarring. The liver enlarges during the early stages of illness. The palms of the hands turn red and patients may experience:

  • Constipation
  • Diarrhea
  • Dull abdominal pain
  • Fatigue
  • Indigestion
  • Loss of appetite
  • Nausea
  • Vomiting
  • Weakness
  • Weight loss.

As the disease progresses, the spleen enlarges and fluid collects in the abdomen (ascites) and legs (edema). Spider-like blood vessels appear on the chest and shoulders, and bruising becomes common. Men sometimes lose chest hair. Their breasts may grow and their testicles may shrink. Women may have menstrual irregularities.

Cirrhosis can cause extremely dry skin and intense itching. The whites of the eyes and the skin may turn yellow (jaundice), and urine may be dark yellow or brown. Stools may be black or bloody. Sometimes the patient develops persistent high blood pressure due to the scarring (portal hypertension). This type of hypertension can be life threatening. It can cause veins to enlarge in the stomach and in the tube leading from the mouth to the stomach (esophagus). These enlarged veins are called varices, and they can rupture and bleed massively.

Other symptoms of cirrhosis include:

  • Anemia
  • Bleeding gums
  • Decreased interest in sex
  • Fever
  • Fluid in the lungs
  • Hallucinations
  • Lethargy
  • Lightheadedness
  • Muscle weakness
  • Musty breath
  • Painful nerve inflammation (neuritis)
  • Slurred speech
  • Tremors.

If the liver loses its ability to remove toxins from the brain, the patient may have additional symptoms. The patient may become forgetful and unresponsive, neglect personal care, have trouble concentrating, and acquire new sleeping habits. These symptoms are related to ammonia intoxication and the failure of the liver to convert ammonia to urea. High protein intake in these patients can also lead to these symptoms.


A patient's medical history can reveal illnesses or lifestyles likely to lead to cirrhosis. Liver changes can be seen during a physical examination. A doctor who suspects cirrhosis may order blood and urine tests to measure liver function. Because only a small number of healthy cells are needed to carry out essential liver functions, test results may be normal even when cirrhosis is present.

Computed tomography scans (CT) , ultrasound, and other imaging techniques can be used during diagnosis. They can help determine the size of the liver, indicate healthy and scarred areas of the organ, and detect gallstones. Cirrhosis is sometimes diagnosed during surgery or by examining the liver with a laparoscope. This viewing device is inserted into the patient's body through a tiny incision in the abdomen.

Liver biopsy is usually needed to confirm a diagnosis of cirrhosis. In this procedure, a tissue sample is removed from the liver and is examined under a microscope in order to learn more about the organ.


The goal of treatment is to cure or reduce the condition causing cirrhosis, prevent or delay disease progression, and prevent or treat complications.

Salt and fluid intake is often limited, and activity is encouraged. A diet high in calories and moderately high in protein can benefit some patients. Tube feedings or vitamin supplements may be prescribed if the liver continues to deteriorate. Patients are asked not to consume alcohol.


Iron supplements, diuretics, and antibiotics may be used for anemia, fluid retention, and ammonia accumulation associated with cirrhosis. Vasoconstrictors are sometimes needed to stop internal bleeding and antiemetics may be prescribed to control nausea.

Laxatives help the body absorb toxins and accelerate their removal from the digestive tract. Beta blockers may be prescribed to control cirrhosis-induced portal hypertension. Because the diseased liver can no longer efficiently neutralize harmful substances, medications must be given with caution. Interferon medicines may be used by patients with chronic hepatitis B and hepatitis C to prevent post-hepatic cirrhosis.


Medication that causes scarring can be injected directly into veins to control bleeding from varices in the stomach or esophagus. Varices may require a special surgical procedure called balloon tamponade ligation to stop the bleeding. Surgery may be required to repair disease-related throat damage. It is sometimes necessary to remove diseased portions of the spleen and other organs.

Liver transplants can benefit patients with advanced cirrhosis. However, the new liver will eventually become diseased unless the underlying cause of cirrhosis is removed. Patients with alcoholic cirrhosis must demonstrate a willingness to stop drinking before being considered suitable transplant candidates.

Supportive measures

A balanced diet promotes regeneration of healthy liver cells. Eating five or six small meals throughout the day should prevent the sick or bloated feeling patients with cirrhosis often have after eating. Alcohol and caffeine, which destroy liver cells, should be avoided. So should any foods that upset the stomach. Patients with brain disease associated with cirrhosis should avoid excessive amounts of protein in the diet.

A patient can keep a food diary that describes what was eaten, when it was eaten, and how the patient felt afterwards. This diary can be useful in identifying foods that are hard to digest and in scheduling meals to coincide with the times the patient is most hungry.

Patients who have cirrhosis should weigh themselves every day and notify their doctor of a sudden gain of five pounds or more. A doctor should also be notified if symptoms of cirrhosis appear in anyone who has not been diagnosed with the disease. A doctor should also be notified if a patient diagnosed with cirrhosis:

  • Vomits blood
  • Passes black stools
  • Seems confused or unresponsive
  • Shows signs of infection (redness, swelling, tenderness, pain).

Alternative treatment

Alternative treatments for cirrhosis are aimed at promoting the function of healthy liver cells and relieving the symptoms associated with the disease. Several herbal remedies may be helpful to cirrhosis patients. Dandelion (Taraxacum officinale) and rock-poppy (Chelidonium majus) may help improve the efficiency of liver cells. Milk thistle extract (Silybum marianum) may slow disease progression and significantly improve survival rates in alcoholics and other cirrhosis patients. Practitioners of homeopathy and traditional Chinese medicine can also prescribe treatments that support healthy liver function.


Cirrhosis-related liver damage cannot be reversed, but further damage can be prevented by patients who:

  • Eat properly
  • Get enough rest
  • Do not consume alcohol
  • Remain free of infection.

If the underlying cause of cirrhosis cannot be corrected or removed, scarring will continue. The liver will fail, and the patient will probably die within five years. Patients who stop drinking after being diagnosed with cirrhosis can increase their likelihood of living more than a few years from 40% to 60-70%.


Eliminating alcohol abuse could prevent 75-80% of all cases of cirrhosis.

Other preventive measures include:

  • Obtaining counseling or other treatment for alcoholism
  • Taking precautions (practicing safe sex, avoiding dirty needles) to prevent hepatitis
  • Getting immunizations against hepatitis if a person is in a high-risk group
  • Receiving appropriate medical treatment quickly when diagnosed with hepatitis B or hepatitis C
  • Having blood drawn at regular intervals to rid the body of excess iron from hemochromatosis
  • Using medicines (chelating agents) to rid the body of excess copper from Wilson's disease
  • Wearing protective clothing and following product directions when using toxic chemicals at work, at home, or in the garden.

Further Reading

For Your Information


  • Berkow, Robert, editor-in-chief. The Merck Manual of Medical Information: Home Edition. Whitehouse Station, NJ: Merck Research Laboratories, 1997.
  • Editors of Time-Life Books. The Medical Advisor: The Complete Guide to Alternative & Conventional Treatments. Alexandria, VA: Time Life Inc., 1996.
  • Springhouse Corporation. Everything You Need to Know About Diseases. Springhouse, PA: Springhouse Corporation, 1996.


  • American Liver Foundation. 1425 Pompton Ave., Cedar Grove, NJ 07009. (800) 465-4837.
  • United Network for Organ Sharing. 1100 Boulders Parkway, Suite 500, PO Box 13770, Richmond, VA 23225-8770. (804) 330-8500.


  • Cirrhosis of the Liver. (May 8, 1998).
  • Cirrhosis of the Liver. (May 11, 1998).
  • Cirrhosis: Many Causes. (May 11, 1998).
  • Liver Diseases in the United States: Fact Sheet. (May 11, 1998).

Gale Encyclopedia of Medicine. Gale Research, 1999.

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