Thanks Chris and other who replied to my query.
Little new has been produced to convince me of late onset/diagnosis of
disease. The biochemical investigations are never quite water tight and
disturbances of copper metabolism can be secondary to other conditions
including those of the liver.
That is why I enquired about genetic confirmation. Despite the limitations
described below in Chris Challoner's email it would be nice to see at
patient over 40 at the time of diagnosis who had a confirmed mutation of the
Quoting Chris Chaloner <[log in to unmask]>:
> I came across the following paper...
> Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB.
> Diagnosis of Wilson's disease: an experience over three decades. Gut.
> 2000; 46: 415-9
> ...in which 5 cases are described of patients over 40y of age with a
> diagnosis of WD on the basis of blood and tissue copper studies. They were
> not genotyped. 3 of 5 had low serum caeruloplasmin mass. Serum Total copper
> and Free copper were not reported. KF rings were present in 2 of the 5. All
> 5 presented with hepatic rather than neuropsychiatric symptoms. 2 had
> normal 24h urine copper excretion, 2 had raised 24h copper and it was not
> measured in 1. All 5 had raised liver copper (>250 microg/g dry tissue
> weight). So not absolutely clear cut biochemical diagnoses.
> As to genotyping for WD in general, there are shortcomings: there are over
> 200 mutations described in the ATP-7B gene so far, so looking for common
> mutations rarely bears fruit; additionally, it is reported that a
> significant proportion of patients in whom there is an uncontroversial
> diagnosis of WD and in whom the gene has been fully sequenced have no
> identifiable mutation / polymorphism.
> I don't think anyone has reported a new diagnosis of WD in a patient in the
> 7th or 8th decade of life, with or without genetics!
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