Dr. MJ Bazos MD,
Wilson's disease causes the body to retain
copper. The liver of a person who has Wilson's disease does not release copper
into bile as it should. Bile is a liquid produced by the liver that helps with
digestion. As the intestines absorb copper from food, 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.
Wilson's disease is
hereditary. Symptoms usually appear between the ages of 6 and 20 years, but can
begin as late as age 40. The most characteristic sign is the Kayser-Fleischer
ring, a rusty brown ring around the cornea of the eye that can only be seen
through an eye exam. Other signs depend on whether the damage occurs in the
liver, blood, central nervous system, urinary system, or musculoskeletal system.
Many signs would only be detected 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
Wilson's disease is
diagnosed through tests that measure the amount of copper in the blood, urine,
and liver. An eye exam would detect the Kayser-Fleischer ring.
The disease is treated with lifelong
use of D-penicillamine or trientine hydrochloride, drugs that help remove copper
from tissue. Patients will also need to take vitamin B6 and follow a low-copper
diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and
shellfish. Taking extra zinc may be helpful in blocking the intestines'
absorption of copper.
requires lifelong treatment. If detected early and treated correctly, a person
with Wilson's disease can enjoy completely normal health.