[Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson's disease]

To analyze the clinical characteristics, treatment, and follow-up of a cohort of 29 patients with Wilson's disease (WD) within the region of Murcia.

We reviewed the medical records of 29 cases of WD (mean age, 20.3 +/- 13.4 years) diagnosed during the last 16 years.

The most frequent reason for consultation was upon discovering a high transaminase level in almost half the patients, followed by tremors or dystonia in 17% of patients, respectively. A Kayser-Fleischer ring was observed in 17/29 (58.6%) of patients (100% of patients with pure neurological involvement and 35% of patients with pure clinical hepatic disease; p < 0.001). Blood copper levels not associated with ceruloplasmin as well as cupruria were notably superior in patients with neurological symptoms and in those with liver cirrhosis at the time of diagnosis. Patient clinical symptoms remained stable with D-penicillamine or trientine, or improved during the observation period, for 18 out of 29 patients (62%), while 11 out of 29 patients (38%) got worse.

In our region patients with WD are diagnosed at a younger age, and in most cases for hepatic disease. Patients with neurological disease or liver cirrhosis had a high level of free copper not associated to ceruloplasmin and cupruria. The disease had a favorable evolution in all patients but those diagnosed with hepatic disease or advanced neurological disease.