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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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Exacerbations of Chronic Obstructive Pulmonary Disease: Should Self-Management Be Used?
From American Journal of Respiratory and Critical Care Medicine, 10/15/04 by Snider, Gordon L

To the Editor:

Wilkinson and colleagues (1) have published the first prospective study demonstrating the importance of early treatment on outcomes of chronic obstructive pulmonary disease (COPD) exacerbations. They defined an exacerbation as the presence for at least two consecutive days of an increase in any two major symptoms (dyspnea, sputum purulence, sputum amount) or increase in one major and one minor symptom (wheeze, sore throat, cough, symptoms of a common cold). Patients who received prompt treatment after the onset of an exacerbation were likely to recover more rapidly than those who delayed reporting their exacerbation and thus began treatment later. Patients who habitually failed to seek therapy for their exacerbations had poorer quality of life and were more likely to be hospitalized for management of an exacerbation.

The authors point out the need for improved symptom recognition and earlier reporting of exacerbations by patients. They suggest patient education, methods of improving compliance, and self-management plans as suitable subjects for investigation.

The literature on self-management of COPD is controversial. Monninkhof and colleagues (2) did a 1-year randomized, controlled trial (RCT) on 248 patients with COPD, and Hermiz and colleagues (3) reported an RCT on 177 patients with COPD. Both of these studies failed to show positive effects of a selfmanagement program. Bourbeau and coworkers (4) performed an RCT on the effects of self-management in patients with moderate to severe COPD; they showed reduction in use of health care services and improved health status. Gallefoss (5), in an RCT on 62 patients with mild and moderate COPD, showed improved patient outcomes and reduced costs in a 12-month follow-up.

The definition of an exacerbation used by Wilkinson and colleagues (1) required symptoms to be present for at least two consecutive days. It is reasonable to ask whether with self-management, treatment could start earlier, say after 24 hours of symptoms.

Additional research is needed to establish, in practice, the best way of starting treatment earlier for exacerbations of COPD. It would also be useful to determine whether self-management has a place in this schema.

Conflict of Interest Statement: C.LS. does not have a financial relationship with a commercial entity that has an interest in the subject of this manuscript.

Dr. Wedzicha was given an opportunity to respond to this letter but declined to do so.


1. Wilkinson TM, Donaldson GC, Hurst JR, Seemungal TA, Wedzicha JA. Early therapy improves outcomes of exacerbations of chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2004;169:1298-1303.

2. Monninkhof E, van der Valk P, van der Palen J, van Herwaarden C, Zielhuis G. Effects of a comprehensive self-management programme in patients with chronic obstructive pulmonary disease. Eur Respir J 2003; 22:815-820.

3. Hermiz O, Comino E, Marks G, Daffurn K, Wilson S, Harris M. Randomised controlled trial of home based care of patients with chronic obstructive pulmonary disease. BMJ 2002;325:938-942.

4. Bourbcau J, Julien M, Maltais F, Rouleau M, Beaupre A, Begin R, Renzi P, Nault D, Borycki E, Schwartzman K, et al. Reduction of hospital utilization in patients with chronic obstructive pulmonary disease: a disease-specific self-management intervention. Arch Intern Med 2003;163:585-591.

5. Gallefoss F. The effects of patient education in COPD in a 1-year follow-up randomised, controlled trial. Patient Educ Couns 2004;52:259-266.


Boston University School of Medicine

Boston, Massachusetts

Copyright American Thoracic Society Oct 15, 2004
Provided by ProQuest Information and Learning Company. All rights Reserved

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