Wilson disease is a rare genetic autosomal dominant disorder and it is characterized by abnormal metabolism of copper which causes excess accumulation of copper in the vital organs such as brain, liver, eyes and other tissues. It occurs due to a genetic mutation of Wilson disease protein gene and the onset of the disease is between an age group of six to twenty years. The main physiological imbalance occurs due to high absorption of copper in the small intestine and reduced level of copper excretion by the liver resulting in liver disease and neurological problems. Hence the treatment for this disorder includes medication that promotes the removal of excess copper out of the body by inhibiting the copper absorption in the intestine although highly affected patients often require a liver transplant.

Signs and symptoms

Wilson disease mainly results in copper deposition of the vital organs and tissues such as brain and liver gradually impairing their normal function and can consequently result in neuropsychiatric and liver diseases. The affected person with Wilson disease associated liver disease can present with confusion, tiredness, internal hemorrhage, and portal hypertension (a condition where pressure rises in the portal vein resulting in bleeding of esophageal blood vessels in association with spleen enlargement and abdominal fluid accumulation). These symptoms are life threatening and require immediate medical attention. Finally the normal functioning capacity of the liver gets impaired consequently compromising the overall health condition.  Neuropsychiatric manifestations of Wilson’s disease involve migraine, behavioral changes, psychosis, depression, seizures associated with mild deterioration of the cognitive function and subcortical dementia. 

In addition, the excessive copper accumulation of the disorder can contribute to the development of various medical diseases by causing hormonal imbalance and consequently affecting the vital organs like kidneys, eyes and heart. The hormonal imbalance is associated with hypo-parathyroidism (decreased production of parathyroid hormone), infertility and abortions. The functions of kidneys get impaired due to renal tubular acidosis, which results in weak bones, nephron-calcinosis (calcium deposition in kidneys) and aminoaciduria (amino acids that are necessary for protein production get excreted in urine). Eyes get affected rarely due to the copper deposition in cornea resulting in the formation of rings around the iris known as Kayser-Fleisher rings. Rarely heart gets affected due to a weakened heart muscle (cardiomyopathy) consequently resulting in cardiac arrhythmias and heart failure.

Stages of the disease

Wilson disease consists of four stages mainly based on the copper deposition and the disease progression by affecting vital organs as mentioned below:-

Stage I: It is the first stage of the disease where the copper accumulates in the liver by attaching to the binding sites of liver cells.

Stage II: This acute stage is associated with the progressive spread of copper in the liver and it gets circulated in the body.

Stage III: It is a chronic stage where the brain and other extra-hepatic tissues get accumulated with copper eventually advancing the disease.

Stage IV - The disease presents with significant signs and symptoms and the copper imbalance can be stabilized on treatment.


The treatment modality for the management of Wilson disease includes the intake of low copper diet, medication, Physical therapy and rarely organ transplantation. The low copper diet includes avoiding food that is rich in copper such as dry fruits, nuts, chocolates, and shellfish etc. Medications promote copper removal by preventing copper absorption in the body.  Physical therapy aims at reducing neurological symptoms such as apraxia, atonia and so on. Rarely patients with an advanced Wilson disease often require liver transplantation.