Clinical outcome of Wilson’s disease patients diagnosed by family screening
K. Dzieżyc1, A. Członkowska1,2
1 Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
2 Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Poland
Background: Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism. First degree familial screening should be performed after WD was diagnosed in the proband, because early diagnosis and treatment can prevent symptoms development. The aim of study was clinical outcome assessment in WD patients diagnosed by family screening who had no previous history of any clinical symptoms.
Methods: We have retrospectively analyzed data of 96 WD patients diagnosed by family screening in our center between 1964 and 2008. We gained information about medical history, physical and neurological examination, laboratory tests at the time of diagnosis and during last follow up visit. Compliance on anti-copper treatment has been assessed. Clinically asymptomatic patients were defined as having any history of neurological or hepatic symptoms.
Results: 82 out of 96 WD patients diagnosed by family screening had no clinical symptoms, however raised aminotransferases levels were present in 77 patients (94 %) and only 5 subjects (6%) had normal laboratory tests. 61 out of 82 subjects without symptoms were again assessed after the follow-up (median follow-up period: 15 years): 41 (69%) remained without clinical symptoms, 6 (10%) had neuropsychiatric symptoms, 7 (11%) hepatic failure and 6 (10 %) patients died (4 from liver failure, 2 from cancer). All patients who developed symptoms had irregular treatment.
Conclusions: Our observations indicate that anti-copper treatment prevent WD symptoms development in patients clinically asymptomatic at the time of diagnosis, providing that there was good compliance to anti-copper therapy. Clinical deterioration is observed after irregular therapy.
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