Understanding Wilson's Disease: By: Uma Patel

 Understanding Wilson Disease


Uma Patel

6/28/26


What is Wilson Disease

Wilson disease is a rare genetic disorder, originally believed to affect about 1 in 30,000

people. However, newer studies suggest 1 in 7,000 people have inherited Wilson disease,

indicating a higher prevalence than previously observed1



. The disease causes an accumulation of

copper in vital organs such as the liver, eyes, kidneys, and brain. Copper is a necessity for many

critical processes – brain tissue production, ATP/energy production, and metabolism - and an

inability to properly remove it can be fatal2


. If not properly treated, Wilson disease can develop

into cirrhosis, a condition where the liver is permanently scarred causing acute liver failure.

Wilson disease results from mutations in the ATP7B gene located on chromosome 13, which

holds the “blueprint” for constructing a copper transport protein out of liver cells. Wilson disease

follows an autosomal recessive pattern. This means it is only inherited if both parents pass down

to their child’s mutated ATP7B gene. Because of this, Wilson disease is not contagious - meaning

it cannot be spread from person-to-person, through physical contact, or airborne transmission.

Symptoms

Liver Symptoms

Wilson disease may cause symptoms of hepatitis, or inflammation of the liver. Some

symptoms include:


- Feeling tired and weak

- Nausea and vomiting

- Loss of appetite

- Pain over the liver

- Jaundice - eyes and skin developing a yellow tint

- Edema- swelling or fluid buildup in the legs or stomach area

Nervous System Symptoms

Copper build-up in the brain can affect the brain’s ability to control movement and

emotion These symptoms are more commonly seen in adults:


- Stiff muscles

- Difficulty with speech or physical coordination

- Tremors, uncontrolled shaking

- Depression and anxiety

Eye Symptoms

- Kayser-Fleischer Rings - a brownish or even dark gold ring around the edge of the

cornea, due to a build-up of copper

- Jaundice - eyes developing a yellow tint


2 https://corporate.dukehealth.org/news/scientists-find-key-copper-absorption-essential-life

1 https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease


How is Wilson Disease Diagnosed

A doctor can diagnose Wilson disease after a physical exam, assessing family history, an

eye exam, and blood tests.

Treatment

Currently Wilson disease can be treated with Chelating agents, a medicine that removes

copper from the body. Another treatment is zinc, which prevents copper build-up in the

intestines. While treatment greatly reduces the harm of symptoms of Wilson disease, medicine

will not cure it. If the disease is detected and addressed early, one can live fully.

Awareness and Conclusion

Wilson disease is rare and underresearched, but awareness is extremely important

because an early diagnosis can drastically change the outcome.. Early research suggests about 1

in 30,000 people were diagnosed, but now the estimate has shifted to 1 in 7,000. Increasing

awareness helps reduce the number of undiagnosed cases. Due to the fact Wilson disease is

genetic, individuals with a family history can benefit from early testing. This allows doctors to

prescribe treatments before excess copper causes permanent damage to vital organs such as the

liver, eyes, and brain. Because there are many symptoms which take much time to progress, early

recognition is key. Spreading awareness is essential to promoting empathy to those who live with

the disease. Greater knowledge and quicker detection will surely improve the lives of those

affected.


Bibliography:

“Scientists Find Key Copper Absorption Essential to Life.” Duke Health,

https://corporate.dukehealth.org/news/scientists-find-key-copper-absorption-essential-life.

“Wilson disease.” National Institute of Diabetes and Digestive and Kidney Diseases,

https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease.

“Mayo Clinic Staff.” “Wilson's Disease.” Mayo Clinic,

https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-2035325

1.

“Family Genetics.” Wilson Disease Association,

https://wilsondisease.org/do-i-have-wilson-disease/family-genetics/.

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