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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