Wilson's disease? Genetic testing?
Hello Doctor: Previously, I experienced involuntary hand tremors that caused significant distress, so I consulted a neurologist.
Blood test results showed low levels of copper and ceruloplasmin, raising suspicion for Wilson's disease.
The doctor recommended that I undergo further testing at a major hospital.
During the examination at the hospital, my copper and ceruloplasmin levels were similarly low (copper at 44 and ceruloplasmin at 10), but urinary copper levels were normal, and there were no abnormalities in my eyes.
Therefore, the doctor said it didn't seem like Wilson's disease and prescribed anticonvulsants, but I felt they were ineffective.
Later, the doctor ordered another blood test, which revealed elevated ferritin levels, although iron levels were normal.
The doctor mentioned that my blood results were quite unusual because aside from the blood tests, my MRI, EEG, and CT scan reports were all normal.
The doctor then asked if I wanted to undergo genetic testing, which may require out-of-pocket expenses, but I am unsure of the cost and couldn't find information online.
I would like to know if there are other conditions besides Wilson's disease that could lead to neurological and blood abnormalities? Is it worth it to pay for genetic testing based on my blood results? Additionally, how much might the testing cost? Thank you.
QQ, 20~29 year old female. Ask Date: 2016/11/09
Dr. Lai Xiangrong reply Rare Disease
Wilson's disease genetic testing is currently available at the Changhua Christian Hospital Genetic Counseling Center, the Genetic Medicine Department of the National Taiwan University Hospital, and the Molecular Biology Section of the Laboratory Medicine Department at China Medical University Hospital.
You can inquire about the pricing for the ATP7B gene test at these three locations.
Typically, a referral from a neurologist is required to obtain the test order, and it is reasonable to proceed with this initial testing.
Reply Date: 2016/11/09
More Info
Wilson's disease is a rare genetic disorder that affects copper metabolism in the body, leading to copper accumulation in various organs, particularly the liver and brain. The underlying cause of Wilson's disease is a mutation in the ATP7B gene, which is located on chromosome 13. This gene encodes a copper-transporting ATPase, an enzyme responsible for regulating copper levels in the body by facilitating its excretion into bile and its incorporation into ceruloplasmin, a copper-carrying protein in the blood.
When there is a mutation in the ATP7B gene, the function of the enzyme is impaired, leading to decreased copper excretion and increased copper accumulation. This accumulation can result in hepatic, neurological, and psychiatric symptoms, which can vary widely among individuals. The prevalence of Wilson's disease is estimated to be around 30 to 60 cases per million people, making it a rare disorder.
In your case, the low levels of copper and ceruloplasmin in your blood, along with normal urinary copper excretion, suggest that Wilson's disease may not be the primary concern. In Wilson's disease, one would typically expect to see low ceruloplasmin levels, elevated serum copper levels, and increased urinary copper excretion. However, your symptoms and laboratory findings indicate that there may be another underlying condition affecting your neurological health.
There are several other rare genetic and metabolic disorders that could lead to neurological symptoms and abnormal blood findings. Some possibilities include:
1. Menke's Disease: A genetic disorder that affects copper levels in the body, leading to copper deficiency and resulting in neurological problems. It is caused by mutations in the ATP7A gene, which is different from ATP7B.
2. Copper Deficiency: This can occur due to malabsorption, dietary deficiencies, or other underlying conditions, leading to neurological symptoms similar to those seen in Wilson's disease.
3. Neurodegenerative Disorders: Conditions such as Huntington's disease or certain types of ataxia may present with similar neurological symptoms, although they are not directly related to copper metabolism.
4. Thyroid Disorders: Given your history of hyperthyroidism, it's important to consider that thyroid imbalances can also lead to neurological symptoms and may affect blood parameters.
5. Autoimmune Disorders: Conditions like multiple sclerosis or other autoimmune diseases can also present with neurological symptoms and may require further investigation.
Regarding genetic testing, it can provide valuable insights, especially if there is a suspicion of a hereditary condition. While the cost of genetic testing can vary widely depending on the specific tests and the laboratory performing them, it is often in the range of several hundred to a few thousand dollars. It is advisable to discuss with your healthcare provider about the potential benefits of genetic testing in your case, considering your symptoms and the results of previous tests.
In conclusion, while Wilson's disease is a significant consideration given your symptoms and lab results, it is essential to explore other potential causes for your neurological and blood abnormalities. Consulting with a genetic counselor or a specialist in metabolic disorders may provide further clarity and guidance on the next steps, including the appropriateness of genetic testing and other diagnostic evaluations.
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