V–W

vasoactive intestinal peptide (VIP) See DIGESTIVE
HORMONES.

Wilson’s disease A hereditary disorder in which
the body does not properly metabolize copper,
which allows deposits of copper to accumulate in
various organs. Without treatment Wilson’s disease
is fatal; with treatment it is easily manageable.
Copper is an important mineral for the body’s
production of various enzymes, including those
that facilitate HEMOGLOBINsynthesis. However, the
body needs only a very small quantity of copper.
In health the LIVER discharges excess copper,
which enters the body through dietary sources,
into the BILE. The bile carries the copper into the
gastrointestinal tract for removal from the body in
the feces. The KIDNEYSalso extract some copper
from the BLOODcirculation, passing it from the
body in the URINE. In Wilson’s disease a genetic
MUTATION prevents the liver from discharging
excess copper. Instead, it stores copper within its
own tissues as well as sends it back out into the
blood circulation. The blood deposits the copper in
tissues throughout the body. As the copper accu-
mulates, it causes scarring and other damage that
interferes with the normal functions of the tissues.

Symptoms and Diagnostic Path

The symptoms of Wilson’s disease vary according
to the body system most severely affected, which
is most often the liver or the BRAINand SPINAL CORD.
Liver involvement produces symptoms such as

• JAUNDICE(yellowish color to the SKIN)


• HEPATOMEGALY(enlarged liver) and SPLENOMEGALY
  (enlarged SPLEEN)


• ASCITES(fluid accumulation in the abdomen)
  
  
  • NAUSEAand VOMITING
    
    
    • abdominal discomfort or PAIN
    
    
    
    
  
  
  
  

Involvement of the brain, spinal cord, and

other structures of the NERVOUS SYSTEMproduces

symptoms that may include

• difficulty moving the arms and legs


• tremors


• confusion


• difficulty speaking and swallowing


• cognitive and memory dysfunction

A conclusive clinical sign for Wilson’s disease is

the appearance of a copper-colored ring around

the iris of the EYE, called a Kayser-Fleischer ring.

Other diagnostic indications include low levels of

copper in the blood and high levels of copper in

the urine. Biopsy of the liver or the kidneys shows

the copper deposits in the tissues.

Treatment Options and Outlook

Treatment targets blocking the body’s absorption

of copper as well as removal of excessive copper

already in the body (chelation). Commonly used

chelation agents include penicillamine and trien-

tine. These drugs bind with the copper, allowing

the kidneys to excrete the bound molecules from

the body in the urine. Zinc acetate can help

reduce gastrointestinal absorption of copper from

the diet. Doctors recommend eating foods that are

low in copper. People who have Wilson’s disease

should drink bottled water because copper is com-

mon in household plumbing and should avoid

cooking with copper pans or implements. The

endocrinologist may also recommend a zinc sup-

plement, as zinc interferes with copper absorption.

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