Wilson's Disease

Wilson's disease is a genetic disorder. It  was first described in 1854 by British Neurologist Friedrich Theodor Von Frerichs and is named after Samuel Alexander Kinnier Wilson. 

"When the body cannot metabolize copper, dangerously high level of the metal accumulate in liver, kidney, brain, bones and eyes. The appearance of brown or green rings in the eyes (Kayser-Fleischer rings) are the most obvious symptoms of the disease."

 Figure 1: Wilson's Disease-Brown or Green rings in the Eyes (Kayser-Fleischer rings)

 

 Figure 2: Kayser-Fleischer rings with  copper deposition in Descemet's membrane,  leading to brown discolouration at the outer margin of the cornea

SYMPTOMS

Symptoms are typically related to the brain and liver. Symptoms usually begin between the ages og 5 and 35 years. males and Females are equally affected.

• Brain 

1. Yellow skin 
2. Fluid build up in abdomen 
3. Swelling of the legs
4. Itchiness 

• Liver

1. Tremors
2. Muscle stifness
3. Anxiety
4. Personality changes
5. Trouple speeking
6. Seeing / hearing thing

 COMPLICATION

1. Liver Failure
2. Liver Cancer
3. Kidney Problem

 MEDICATION

1. Dietary changes: avoid high copper containing food. i.e., Mushrooms, nuts, chocolate, dried fruits, shellfish.
2. Chelating agents: i.e., Trientine
3. Zinc supplement: Zinc acetate
4. Liver transplant

DIAGNOSIS

1. Family history
2. Physical examination : By using stethoscope to listen to sound related to the abdomen.
3. Blood test: To check copper level in blood
4. Urine tests: To check increase level of copper in urine by 24 hours
5. Imaging test: MRI, CT scan