We will explore the causes, symptoms, diagnosis, treatment, and prevention strategies associated with Wilson disease, a rare genetic disorder characterized by copper accumulation in the liver and brain.
In Wilson disease, mutations in the ATP7B gene impair the body's ability to properly excrete excess copper, which causes copper to accumulate in tissues and organs.
There are many symptoms associated with Wilson disease, which may vary in severity and onset.
Copper buildup in the liver can cause symptoms such as jaundice, abdominal pain, and spleen or liver enlargement.
Copper accumulation in the brain can cause neurological symptoms, such as tremors, difficulty with coordination, stiffness, and involuntary movements.
Individuals with Wilson disease may experience mood swings, depression, anxiety, or other behavioral changes.
A copper deposit in the eye can cause Kayser-Fleischer rings, which are golden-brown rings around the iris.
Wilson disease is typically diagnosed through a combination of medical history review, physical examination, and diagnostic tests, including:
A blood test can assess levels of ceruloplasmin, a protein that binds to copper, as well as levels of copper and other liver function markers.
Copper excretion can be measured through urine tests.
The liver may be evaluated using imaging tests such as ultrasound, CT scans, or MRI scans.
To assess copper accumulation in the liver, a small sample of liver tissue can be obtained and examined under a microscope.
Wilson disease is treated by reducing copper levels in the body and preventing further damage to organs. Common treatments include:
Copper-chelating medications, such as penicillamine or trientine, can be prescribed to bind excess copper and facilitate its excretion.
A zinc supplement may help reduce copper levels over time by interfering with copper absorption in the intestines.
Transplantation of the liver may be considered as a treatment option when liver damage is severe or life-threatening.
Since Wilson disease is a genetic disorder, there are no specific preventive measures to avoid its development. However, early diagnosis and treatment can help manage symptoms and prevent complications. The risk of carrying the genetic mutation and developing Wilson disease may be assessed by genetic counseling and testing for families of individuals with Wilson disease.
