Wilson's Disease

Sorry for the very technical post, but I've had two different MDs tell my patients that I was wrong regarding the testing and interpretation of copper and ceruloplasmin and resulting concern of the possibility of Wilson's Disease (WD).

Wilson's Disease is a genetic condition in which the body makes too little of a protein called ceruloplasmin. The result is that the body can't keep copper in the blood and it ends up getting deposited into the liver, brain, and eye tissue.

But here is what they are misinterpreting:
- Ceruloplasmin levels are LOW in WD
- Serum copper levels are LOW in WD
- *this is the part where they are confused* FREE copper levels are normal or HIGH in WD. So these physicians are telling my patients that they could not possibly have WD because they have low serum copper. Again, serum copper is not the same as free copper.

Labs report *serum copper* and usually not *FREE* copper (I've seen it calculated on some alternative labs). Free copper is a calculation in which the ceruloplasmin (in mg/dL) is multiplied by 3; this value is then subtracted from the total serum copper level (in μg/dL). When the result is above 25 μg/dL, AND the person has low ceruloplasmin, AND low serum copper, I send them to an opthalmologist to have a slit-lamp test to look for Kayser-Fleischer rings, a keynote symptom in many WD patients.
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This scenario doesn't happen often, but it does happen. If you have an MD who doesn't understand the difference, I'd be happy to explain it to them.