What is the percentage of Wilson patients who have elevated serum copper levels?
Thank you. However, the actual topics of my question are about how this mutation causes the altertions of the serum copper level found in patients with Wilson disease and about the diversity of these alterations, i.e. a low serum copper level found in one group of patients while in others there are normal or even increased levels. In this context, I would also like to know the most common cause of an increased serum copper level which is definitely not Wilson disease, isn't it?
Total copper levels ( is the usually laboratory measure) are low because ceruloplasmin - the cooper transporter - are low too, and the majority (80-90%) of serum copper is linked to ceruloplasmin. The free copper is elevated in the majority of pacientes with exception of childrens until 5-6 years old with WD , in the first years of life the ceruloplasmin could be normal or high, so the the total copper is normal or high.
If we know the level of free copper and amount excreted in 24 h urine, so we can reach a lot of information. First : high serum free copper with high amount of urine copper denoting non compliance to treatment or non diet control. Second: average serum free copper with high urine copper denoting good treatment doses and good diet control. Third: low serum free copper and good amount of excreted copper in urine denoting over chelation by drugs and we have to decrease doses.
Tks Andreas. Unfortunately, the dosage of seric free copper is not reliable, and the formula to define the levels have some restrictions. The best, and the only laboratory way to monitoring WD compliance and evolution, is the the 24h urinary copper levels ( mcg-L). The clinicalpicture, Kayser--Fleischer rings and brain MRI have long-term interest.
Because of low ceruloplasmin. Free copper is high but total copper might be low
Because of low ceruloplasmin. In Wilson disease it's free copper which is high but total copper might be low
Thank to all of you. I have learned a lot from you. Still, I am asking for an answer of the second question: What is the percentage of Wilson patients who have elevated serum copper levels? Are there any reliable prevalence data answering this question? I will be happy to receive your answers.
Rather, only WD patients with acute liver failure present with increased level of total serum copper. As we know just few percent of patients start WD with such presentation. In other WD patients the elevated total copper level is not normal finding.
I acute liver failure presentation, the serum copper is high in Wilson disease and in most of case higher than 200 micrograms/dl.
Serum copper is equal to free cu plus ceruloplasmin bound cu. Initially due to low ceruloplasmin total serum cu is low but in Wilsonian liver failure due to massive release of free cu total serum cu increases. In late stage of WD when liver is saturated, cu releases & increases serum cu level & deposited in different organs like brain, kidney, bone, etc. Ceruplasmin bound cu in microgram is equal to ceruloplasmin in mg X 3.1. Serum free cu is usually monitored to see the efficacy of chelators.
Dear Karim! Thank you for your contribution. I just want to add a follow up question to you: Can we really expect each patient with a Kayser Fleisher ring, which is an example of extrahepatic cu deposition, to have an elevated total serum cu? Or isn't the much more common finding in such a patient a low total serum cu along with an increased free serum copper?
Dear Andreas, Yes, a low total serum cu along with an increased free serum copper is the much more common finding.
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