Wilson's Disease - Causes and Symptoms

Wilson's disease is a rare disease and hence, not many are aware about it. This disease is also known as the hepatolenticular degeneration, which is a rare genetic systemic disorder of copper metabolism. The victims of this disease have copper accumulated in the liver and when the capacity of that storage is exceeded, copper is released from the liver and starts getting collected in other organs of the body, like kidneys, brain and eyes.

Copper accumulation, in an individual, may start at birth but the symptoms of this disease are seen at a later stage of adolescence. All the victims have copper initially accumulated in the liver which may cause chronic or acute hepatitis - inflammation of the liver or a severe liver disease due to gradual loss of liver function, known as cirrhosis. This may include mild degree of involvement of the liver or complete liver failure. The symptoms may include abdominal swelling and yellow discoloration of skin and eyes like in jaundice, anorexic behavior, ascites - fluid accumulation in abdomen, weight loss and weakness, liver or spleen enlargement or both - known as hepatomegaly and splenomegaly and hepatosplenomegaly respectively. If the age is young at the onset of symptoms, there is a greater degree of liver involvement. The patients of Wilson's disease have predominant neurological symptoms after the age of 20 years.

According to healthcare experts, the symptoms of this disease are also associated with the nervous system but vary with the age of the patient. These symptoms may be dystonia - repetitive movements, balancing difficulty, slowness of finger movements, tremor of the head, arms, or legs, slowness of movements (bradykinesia), especially of the tongue, lips, and jaw, sustained muscle contractions that produce abnormal postures, clumsiness and impaired coordination of voluntary movements, such as walking (ataxia) and loss of fine motor skills. Tremor or trembling may be present in one hand or leg and gradually include all four limbs and speech may become increasingly slurred or slowed (dysarthria).

Wilson's disease may also result in psychiatric problems like increased irritation, agitation, suicidal thoughts and depression, mood swings, strange behavior, neurotic anxiety or hysteria. Those on advanced stages may experience dementia - loss of intellectual skills and cognitive abilities or in worst case, psychosis could happen like manic depressive disease, schizo-affective disorder or schizophrenia.

Sometimes, Wilson's disease may include dark skin patches, low level of circulating blood platelets due to which bruising and bleeding happens easily, impaired kidney functions, early breakdown of red blood cells, softening and thinning of bones and problems of joints of the arms and legs.

Once the causes and symptoms are known, it becomes easier to choose the mode of treatment.