Medical questions & health advice by board certified doctors
"Could I have Wilson's disease?"
Both my total serum copper and ceruloplasmin are within normal ranges but my total copper is 1.18 mcg/mL, and my ceruloplasmin is 24.1 mg/dL. Converting total copper to mcg/dl is 118mcg/dl, so if using the formula (118 mcg/dl)-(3X 24.1 mg/dl)= 45.7 ug/dl per (Total Serum Copper in µg/dl) - (Ceruloplasmin in mg/dl x 3) = Free Copper (Normal range is 5 - 15 µg/dl), what does this mean? Is this diagnostic of Wilson's or does it simply mean more testing is needed? Are their other things that can lead to high free serum copper besides Wilson's that are non-diet related? (I eat a pretty well balanced diet and do not take supplements that such as copper or zinc, nor do I take a multivitamin. I just take Vitamin D3 1000 IU a day).
Thank you for this interesting question. Wilson's disease is not based on laboratory copper testing alone. In order to definitively answer your question, I would need to review your entire medical history and perform a thorough physical exam. In addition, I would need to review your additional blood testing, and it would be important to know the reason you underwent this testing in the first place. Only after collecting this information would it be possible to make an accurate diagnosis. Therefore, I strongly encourage you to discuss these issues with a gastroenterologist. Wilson's disease is a genetic disease that affects copper transport, thus leading to abnormal copper deposition within the body. As a result, patients often develop liver disease, neurologic disorders, psychiatric disorders, pathognomonic ocular manifestations, and potential issues with other organs. Testing for Wilson's disease is often prompted by abnormal liver tests or a positive family history. Diagnosis typically depends initially on a high clinical suspicion. Blood testing for copper and ceruloplasmin levels are useful, and a 24 hour urine copper collection can also be used. Liver biopsy is another possibility. I am unclear of any clinical utility of a free copper level. I encourage you to discuss these issues with a gastroenterologist.
Need more info?See a doctor today
Zocdoc Answers is for general informational purposes only and is not a substitute for professional medical advice. If you think you may have a medical emergency, call your doctor (in the United States) 911 immediately. Always seek the advice of your doctor before starting or changing treatment. Medical professionals who provide responses to health-related questions are intended third party beneficiaries with certain rights under Zocdoc’s Terms of Service.