Difficulties in diagnosis and treatment of Wilson disease—a case series of five patients

Wilson disease (WD) may present symptomatically at any age. There is great variability in the neurological symptoms present, in the clinical state of WD patients, and in the response to decoppering therapy. Early diagnosis and compliance with anti-copper therapy are essential. Here we present five different WD cases to illustrate different problems encountered during diagnosis and treatment. The first case demonstrates that decoppering therapy may be very effective even with severe neurological symptoms. In addition, we see the importance of family screening, especially among the proband’s siblings. Case 2 shows that we must be very careful during diagnosis. In the reported family, WD was diagnosed in the father of the proband although her brother had liver pathology but not caused by WD. Other cases teach us that decoppering therapy with d-penicillamine must be introduced slowly because of the high risk of neurological deterioration, especially in patients with typical WD brain changes even without neurological signs. We also have to consider concomitant therapies in WD patients. Neuroleptics may cause exacerbation and should be used at a low dose and for the shortest period possible. A full consideration for the issues surrounding the diagnosis and treatment of WD can lead to optimised care with reduced risk of progression and disability.