Wilson Disease or Hepatolenticular Degeneration

What Is Wilson Disease Or Hepatolenticular Degeneration?

Wilson Disease or Hepatolenticular Degeneration is a rare genetic pathological condition in which there is accumulation of excessive copper in the liver, brain and other important organs of the body. The symptoms of Wilson Disease or Hepatolenticular Degeneration can be observed beginning at the age of 12 till the age of 25. Copper is an important element for the body and is used for development of nerves, bones, and melanin. Under normal circumstances, copper is absorbed by the blood and excess copper is eliminated from the body through bile but in individuals affected with Wilson Disease or Hepatolenticular Degeneration the excess copper is not able to be eliminated from the body and there is accumulation of excess copper in the body resulting in this condition. If Wilson Disease is diagnosed early enough then it is definitely treatable and many individuals lead a normal lifestyle.

What Are The Causes Of Wilson Disease Or Hepatolenticular Degeneration?

Wilson Disease or Hepatolenticular Degeneration is a genetic pathological condition. It is an autosomal recessive disorder meaning that the affected individual needs to inherit the defective gene from both the parents. In case if the individual inherits only one defective gene then he or she is said to be a carrier of the disease.

What Are The Symptoms Of Wilson Disease Or Hepatolenticular Degeneration?

Some Of The Symptoms Of Wilson Disease Or Hepatolenticular Degeneration Are:

  • Excessive fatigue
  • Reduced appetite
  • Abdominal pain
  • Jaundice
  • Easy bruising
  • Buildup of fluid in legs or abdomen
  • Dysphasia or dysphagia
  • Extreme muscle stiffness.

How Is Wilson Disease Or Hepatolenticular Degeneration Diagnosed?

To diagnose Wilson Disease or Hepatolenticular Degeneration is quite tough as the symptoms produced by it are quite similar to other disorders of the liver and furthermore the signs and symptoms do not present themselves all at once but are observed over a period of time.

Some Of The Methods To Diagnose Wilson Disease Are:

  • Blood & Urine Tests: The treating physician may order routine blood and urine examinations to look at the function of the liver and investigate the copper levels in the body. The physician may also examine the amount of copper that is excreted from the body in 24 hour period.
  • Eye Exam: This is also an important test to identify Wilson Disease or Hepatolenticular Degeneration as individuals with this disease will have a distinct golden-brownish discoloration which is caused by excessive copper deposits in the eye.
  • Liver Biopsy: The physician may also do a liver biopsy to check the levels of copper in the liver.
  • Genetic Testing: This is done to identify whether an individual carries the defective gene which causes Wilson Disease or Hepatolenticular Degeneration.

What Are Treatments For Wilson Disease Or Hepatolenticular Degeneration?

If identified early enough, Wilson Disease or Hepatolenticular Degeneration is definitely treatable. To treat Wilson Disease or Hepatolenticular Degeneration, the physician may prescribe medications called chelating agents which aid in release of excess copper into the blood which is then filtered by the kidneys and excreted through urine. The treatment then is aimed at preventing buildup of copper.

Some Of The Medications Used For Treating Wilson Disease Or Hepatolenticular Degeneration Are:

  • Cuprimine: This is pretty useful medication for treating Wilson Disease but it carries with it a plethora of side effects including skin problems, bone marrow suppression etc.
  • Syprine: This medication also works in the lines of Cuprimine but has lesser side effects.
  • Galzin: This medication prevents the body from absorbing copper from the food but is cause gastrointestinal irritation.

Surgery For Wilson Disease Or Hepatolenticular Degeneration:

Liver Transplant surgery is required for individuals who have incurred severe liver damage as a result of Wilson Disease or Hepatolenticular Degeneration.

Prognosis Of Wilson Disease Or Hepatolenticular Degeneration

If not treated properly, Wilson disease can be fatal. Patient with this disease usually require lifelong treatment. Level of disability is depended on severity level of this disease at the time of starting the treatment. Sooner the treatment begins, better is the prognosis for Wilson Disease and the patient can be expected to live a normal life span.

Foods To Avoid In Wilson Disease Or Hepatolenticular Degeneration

In case of Wilson Disease or Hepatolenticular Degeneration is identified in an individual, then the individual should avoid the following foods which are high in copper

  • Liver
  • Mushrooms
  • Nuts
  • Chocolate.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: December 1, 2014

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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