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!]

A battle worth fighting
From Essence, 12/1/04 by Diane Weathers

I'm shaking things up this month to rally your support for a cause we at the magazine fervently believe in. It is the fight against HIV, the virus that causes AIDS. Back in the days when AIDS was seen mostly as a gay men's epidemic and the life-prolonging treatments we have today weren't available, I lost three wonderful men in my life to the disease: Don, Marcel and Jim. These days the spread of the virus affects us all, but it is affecting African-American women at disproportionate rates. Black women account for a shocking 72 percent of all new HIV/AIDS cases among women in the United States, and Black girls represent 76 percent of all new cases among female American teenagers. These alarming numbers have been reported in newspapers and in this magazine, so I was stunned to hear Vice-President Dick Cheney, during his campaign debate with vice-presidential nominee John Edwards, express surprise at this growing threat to African-American women. Questioned by moderator Gwen Ifill, he seemed to be hearing of the crisis for the first time.

When Phill Wilson, pictured with me here, approached us about working together to raise awareness of the spread of HIV among Black women, we didn't need convincing. As the director of The Black AIDS institute (BAI) in Los Angeles, Wilson is widely respected as a global warrior in the fight against the disease. Two years ago, his organization enlisted this magazine, along with hundreds of other Black media outlets, in the Drumbeat Project, in an effort to bring our audiences simultaneous coverage of the crisis. Earlier this year BAI partnered with the Ladies First concert tour featuring Alicia Keys, Beyonce and Missy Elliott. Wilson's group held Town Hall meetings on HIV in 12 cities along the concert route, convincing 2,000 people to be tested for the virus.

Now Wilson wants to focus on the spread of the disease among African-American women. This is where you and I come in. We've devised a way to help him fight the good fight--and make your Christmas shopping more meaningful. From now until the end of December, we will pass on to BAI the net proceeds from every new ESSENCE subscription ordered through or (800) 526-4525, including every new gift subscription you buy for that special woman or man on your gift list. Spreading the word is the first step in raising consciousness and encouraging safe-sex practices, so a portion of your contributions will help fund a national summit next year.

Our favorite funny girl, actress and comedian Mo'Nique, has agreed to be our spokesperson for this fund-raising campaign. The sorors of Delta Sigma Theta have also agreed to partner with us in this special subscription drive. Our goal of $250,000 is a relatively modest one, given the need. And we're confident we can reach it one subscription at a time. I'll be sure to let you know how we're doing. Meanwhile, I wish good health, happiness and love to you all.



COPYRIGHT 2004 Essence Communications, Inc.
COPYRIGHT 2005 Gale Group

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