Wilson's Disease: Symptoms, Diagnosis, and Military Exemptions

Wilson's disease

Hello, doctor.
It seems that someone in my family has similar symptoms, and I have also had a blood test.
My copper level is 725, and one type of protein is at 20, which I believe is normally between 25 and 40.
The doctors say that my level is low and that I need to be monitored for six months, which makes me quite anxious.
I also recall that I had involuntary tremors in my fingers when I was younger.
Is there anything I need to pay attention to? Additionally, I saw in the military service section that individuals with mild tremors may be exempt from service.
Could I qualify for that? Thank you for your response.
I appreciate it!

nds, 20~29 year old female. Ask Date: 2005/03/10

Dr. Jian Yingxiu reply Rare Disease

Please discuss with your physician whether further laboratory diagnostics are needed for confirmation.

Reply Date: 2005/03/10

More Info

Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic disorder that leads to excessive accumulation of copper in the body, particularly in the liver and brain. This condition is caused by mutations in the ATP7B gene, which is responsible for the transport of copper in the body. The ATP7B gene is located on chromosome 13 and encodes a copper-transporting ATPase enzyme. When this gene is mutated, the body is unable to properly excrete copper, leading to toxic levels that can cause significant damage to various organs.

Symptoms of Wilson's Disease
The symptoms of Wilson's disease can vary widely among individuals and may include:
1. Liver Symptoms: These can range from mild liver dysfunction to severe liver disease, including cirrhosis. Symptoms may include jaundice, fatigue, and abdominal swelling due to fluid accumulation (ascites).

2. Neurological Symptoms: Neurological manifestations can include tremors, dystonia (involuntary muscle contractions), and coordination problems. Patients may also experience psychiatric symptoms such as mood swings, depression, and cognitive decline.

3. Ocular Symptoms: A characteristic sign of Wilson's disease is the presence of Kayser-Fleischer rings, which are greenish-brown deposits of copper in the cornea of the eye. These rings can be detected through a slit-lamp examination.

Diagnosis
Diagnosis of Wilson's disease typically involves a combination of clinical evaluation, laboratory tests, and imaging studies. Key diagnostic tests include:
- Serum Ceruloplasmin: This protein helps transport copper in the blood. In Wilson's disease, ceruloplasmin levels are often low.

- 24-Hour Urinary Copper Excretion: Elevated levels of copper in urine can indicate Wilson's disease.

- Liver Biopsy: A liver biopsy may be performed to measure the copper content in liver tissue, which can confirm the diagnosis.

- Genetic Testing: Testing for mutations in the ATP7B gene can provide definitive confirmation of Wilson's disease.

Military Exemptions
Regarding military exemptions, the criteria for exemption can vary by country and specific military regulations. In many cases, individuals with medical conditions that significantly impair their ability to perform military duties may be eligible for exemption. If you have been diagnosed with Wilson's disease or exhibit symptoms such as tremors, it is crucial to provide documentation from your healthcare provider regarding your condition. This documentation can support your request for exemption based on medical grounds.

Recommendations
Given your reported symptoms, including tremors and low serum ceruloplasmin levels, it is essential to follow up with a healthcare provider who specializes in metabolic disorders or a hepatologist. Regular monitoring of your copper levels and liver function is crucial in managing Wilson's disease. Additionally, dietary modifications may be necessary to limit copper intake. Foods high in copper, such as shellfish, nuts, chocolate, and certain grains, should be avoided.

In summary, Wilson's disease is a serious condition that requires careful management and monitoring. If you have concerns about your symptoms or potential military exemptions, it is advisable to consult with a healthcare professional who can provide personalized guidance and support.

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