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Doctor insights on: Who Does Genetic Tests For Wilson Disease

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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What are the tests for wilson disease?

What are the tests for wilson disease?

It depends: Serum ceruloplasmin is often used and it is a poor choice as it misses about 30% of cases. Urine copper is my choice. If there's a family history or the diagnosis seems obvious, or urine copper is high, test the ATP7B gene. ...Read more

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I have low ceruloplasmin on blood test, so what are the chances I have wilson disease?

I have low ceruloplasmin on blood test, so what are the chances I have wilson disease?

Need more workup: Low ceruloplasmin by itself is not diagnostic of wilson disease. Decreased ceruloplasmin and blood copper concentrations and increased urine copper levels may indicate wilson disease. Definitive diagnosis may require a liver biopsy. ...Read more

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Hi. What is wilson disease diseas?

Hi. What is wilson disease diseas?

Copper: Wilson's disease is a disorder of copper metabolism causing too much copper in the blood and tissues. ...Read more

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What is wilson disease? What is the problem in the body?

What is wilson disease?  What is the problem in the body?

Mutated ATP7B: The cells can't transport copper out of their cytoplasm as they should. This cases the complications of liver cell death and cirrhosis, brain damage, and so forth. ...Read more

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How can I treat wilson disease?

How can I treat wilson disease?

Don't self-treat: Usually an oral medicine to manage copper is all that's required. Be very wary of "alternative and complementary" remedies in this very serious illness, and discuss anything you may be using with your gastroenterologist. I'm going to assume you have real Wilson's and not the "pop" Wilson syndrome, which is not a real illness. Best wishes. ...Read more

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My dr. Says I have high copper in my blood (serum copper). Could I have wilson disease? 

My dr. Says I have high copper in my blood (serum copper). Could I have wilson disease? 

Need tests: Most cases of wilson disease show symptoms between childhood and early adulthood, some may present in their 30's and 40's. Diagnosis is made by blood, urine tests and an eye examination for kayser-fleischer rings (copper deposit around the cornea). Liver biopsy and genetic tests are also options. Not all patients experience the same set of symptoms or timeline, so thorough testing is important. ...Read more

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Describe the treatments enzyme substitution in wilson disease?

Describe the treatments enzyme substitution in wilson disease?

Wilson disease: Excess opper accumulation with serious end organ damage. Treatment after diagnosis is chelation therapy to diseaseexcess copper. Then avoidance of reaccumulation. See mayo clini wilsons disease well written and presented for non medical personnel. ...Read more

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I have Low caeruloplamin 0.19g/L and low serum copper 12.5 umol/L - units (Australian). Do I have Wilson Disease? or Copper deficiency? Thanks.

Finish workup: If there is any concern at all that you have Wilson's, get a proper screen -- urinary copper and perhaps a genetic screen if you've got suggestive symptoms. Missing Wilson's leads to one of the most grisly deaths possible. Managing it is easy. Your ceruloplasmin is trivially low and reference ranges are set so that a few percent of healthies are outside on either end. ...Read more

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Dr. Robert Hutchman
74 doctors shared insights

Wilson's Disease (Definition)

Wilson disease is a genetic condition in which a person's body cannot handle the normal amount of copper obtained through foods. Over time, the copper accumulates in the body and damages the ...Read more