Thanks Chris and other who replied to my query.
Little new has been produced to convince me of late onset/diagnosis of
Wilson's
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
least one
patient over 40 at the time of diagnosis who had a confirmed mutation of the
relevant gene(s).
Mike Addison
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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