Comparative management practices of Wilson disease in Californian and Italian providers.

backgroundThere is a scarcity of randomized and high-quality studies to aid clinicians in management and treatment of Wilson disease (WD). Even amongst society practice guidelines in North America and Europe, diagnosis and management of WD varies. The aim of this study is to elucidate WD diagnosis and treatment patterns by conducting a survey of clinicians in California and comparing the results to clinicians in Italy as a representation of European practices.

methodsWe developed a 51-item survey assessing WD diagnostics, therapeutics, and disease monitoring. The survey was distributed through email to 1330 California gastroenterologists, hepatologists, and movement neurologists and to multiple Italian academic medical centers.

resultsThirty-two providers in California completed the survey encompassing a total of 236 patients. Twenty-three providers in Italy with a total of 390 patients in their care responded. About half of California providers perform a full neurologic evaluation before initiating therapy in patients with predominantly hepatic presentation while 71% of Italian providers perform one. In patients with predominantly hepatic presentation, 47.4% of California providers use trientine as initial therapy, 26.3% use d-penicillamine, and 10.5% use combination therapy with chelators and zinc. No one reported using zinc monotherapy as initial treatment. Italian providers report using d-penicillamine as initial therapy in 85% of cases, followed by zinc salt (10%), and none uses trientine. WD patients on combination therapy with chelators and zinc are followed by 34% of California respondents and 32% of Italian respondents. In patients with predominantly neurologic manifestations, initial therapy choices are variable with 38.9% of California providers using d-penicillamine, 16.7% using zinc salts, 11.1% using trientine, and 22% using other therapies. 55% of Italian providers use d-penicillamine, 20% combination chelator and zinc, 15%, trientine and 10% zinc salts. Changing from initial therapy to maintenance therapy in both surveys occur after stabilization of clinical presentation, liver function tests, and 24-hour urinary copper in 72% and 86% of California and Italian providers respectively.

conclusionsOur findings highlight the significant variability in initial therapies for WD amongst California and European/Italian providers. Despite the wide use of combination therapy of chelators and zinc, its needs further exploration.