Hepatolenticular degeneration syndrome is an hereditary disorder that does not permit your body to get rid of extra copper. Hepatolenticular degeneration syndrome is evidenced by too much copper accumulating in your liver, brain, eyes, and other vital organs.
An excess of copper is poisonous. Over time, high levels of copper may result in life-threatening organ damage.
You get copper by absorbing it from the food that you eat. Excess copper is excreted through bile. Bile is a digestive fluid produced by your liver.
With hepatolenticular degeneration syndrome, excess copper is not eliminated like it ought to be. Instead, it accumulates to what can become a life-threatening level.
How does Hepatolenticular Degeneration Syndrome Happen?
Hepatolenticular degeneration syndrome develops from a genetic mutation of chromosome 13 that affects ATP7B. This is a protein that helps transport copper into your bile. ATP7B is also involved in incorporating copper into ceruloplasmin, which is a protein that takes copper through your bloodstream.
The mutations in the ATP7B gene result in copper not being eliminated from your body as it should be. Instead, it builds up in your liver where it may bring about severe and sometimes irreversible damage. As time passes, the excess copper spills out of your liver and begins to accumulate in and hurt other organs, especially your joints, kidneys, eyes and brain.
While ATP7B defects may occur spontaneously, most often they are handed down from one generation to the next. Hepatolenticular degeneration syndrome is inherited as an autosomal recessive trait. This means that you have to inherit the mutated gene from both of your parents in order to have this syndrome. You are regarded as a carrier of the syndrome if you only inherit one abnormal gene. You may then pass the mutated gene on to your children.
Hepatolenticular degeneration syndrome may appear in a variety of ways. However, you may have it for several years before you notice any signs or symptoms.
The signs and symptoms produced by hepatolenticular degeneration syndrome usually begin when you are between the ages of 6 and 20. However, they may begin as late as the age of 40.
The signs and symptoms that you have with hepatolenticular degeneration syndrome will depend on where the copper build up occurs in your body. When copper builds up in your liver, you may have signs and symptoms that are similar to chronic liver disease. Some of these are:
- Fluid accumulation in your abdomen or legs
- A tendency to bruise easily
- Jaundice (yellowing of your skin and the whites of your eyes)
- Swelling of your spleen or liver
Copper accumulating in your central nervous system may cause neurological effects. These may include:
- Problems with physical coordination, swallowing or speech
- Changes in your behavior
- Muscle stiffness
- Uncontrolled movement or tremors.
Other signs and symptoms of hepatolenticular degeneration syndrome may occur including:
- Slower clotting of your blood
- A low platelet count or white blood cell count
- Premature arthritis and osteoporosis
- High levels of protein and carbohydrates, uric acid and amino acids in your urine