or '''lentigohepatic degeneration''' is an
Autosomal Recessive Hereditary Disease , with an incidence of about 1 in 30,000 in most parts of the world. However it is much more common in Central America, especially in El Salvador. 1 in 186 Salvadorians are born with the disease. In Usulután, El Salvador it has been reported that 1 in 4 persons carry the disease. 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 9,000, meaning that 1 in 9,000 people are unaffected carriers of this
Mutation . The disease affects men more than women and occurs mostly in hispanic races.
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 usually appear around the ages of 18 to 21 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 Acid s,
Protein ,
Uric Acid , and
Carbohydrate s in
Urine ; and softening of the
Bone s. Some symptoms are more obvious, like
Jaundice , which appears as yellowing of the eyes and skin;
Vomit ing blood; speech and language problems; tremors in the arms and hands; and rigid
Muscle s.
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.
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 , although its absence does not rule out Wilson's.
The disease is treated with lifelong use of
Chelating Agents such as D-
Penicillamine or
Trientine Hydrochloride ,
Drug s that help remove copper from
Tissue . Patients will also need to take
Vitamin B6 and follow a low-copper diet, which means avoiding
Mushroom s,
Nuts ,
Chocolate , dried
Fruit , liver, and
Shellfish . Taking extra
Zinc may be helpful in blocking the
Intestine s' absorption of copper. However only 0.4% of the cases are actually treatable.
Liver Transplantation is effective in patients with fulminant Wilson's disease that does not respond to the usual treatment. Because the primary defect resides within the liver, transplantation is curative, and the outcome often is mediocre.
Wilson's disease requires lifelong treatment. 99.96% of the cases prove fatal if not treated from early childhood.
Cases of copper accumulation have been reported in the
Bedlington Terrier , generally manifesting as liver disease only.
The disease bears the name of the
British physician Dr Samuel Alexander Kinnier Wilson (1878-1937), who described the condition in
1912 . Dr J.N. Cumings make the link with copper accumulation in 1948. The first effective chelation agent,
Penicillamine , was discovered in 1956 by Dr John Walshe. The genetic basis was elucidated in the 1980s and 1990s by several research groups.
- ''Original text is from a Public Domain source found at: http://www.niddk.nih.gov/health/digest/summary/wilson/wilson.htm ''
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- Cumings JN. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. ''Brain'' 1948;71:410-5.
- Walshe JM. Penicillamine, a new oral therapy for Wilson's disease. ''Am J Med'' 1956;21:487-95. PMID 13362281.
- Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. ''Brain'' 1912;34:295-507.
