April 9, 2011

Misconceptions on Wilson Disease on The New York Times? (Discrepancies&Doubts 3)

I have noticed a considerable number of people linking on Twitter an article appeared on nytimes.com:

No one has pointed out anything, but I believe that there have been published some misconceptions on Wilson disease.
... an inherited liver disorder, like Wilson disease, where excess dietary copper builds up and injures the liver and brain. Or perhaps what looked like liver disease was not — a muscle disease can also produce the elevated enzymes seen in this patient.
Rand ordered a test for ceruloplasmin, the missing protein that causes Wilson disease.

I think the pathogenesis as presented ("Wilson disease, where excess dietary copper") is misleading. Excess? Patients with Wilson disease have a mutation in the ATP7B gene on chromosome 13 and need chelation therapy.

Secondly, yes in Wilson disease, ceruloplasmin levels MIGHT BE low: infact in 40% of patients with hepatic symptoms the levels are normal, for sure it's not "the missing protein that causes Wilson disease". Aceruloplasminemia is another condition.

For the past nine years, this column has presented medical mysteries that doctors eventually solve.

Why Wilson disease has been presented this way is indeed a mistery. Please solve this.

Update: Only one (out of 23 comments from the "digital herd") has noticed this.