Controversies and Variation in Diagnosing and Treating Children With Wilson Disease: Results of an International Survey.

Abstract

Variation in care is more common in settings in which evidence-based approaches are limited. The aims of the present study were to describe consensus and variability in approaches taken by pediatric hepatologists in the management of Wilson disease (WD) in children. International case-centered, Internet-based survey of pediatric hepatologists. Survey cases were developed by consensus of the authors and were intended to identify variation in the care of children with WD. One hundred eleven of 253 clinicians responded (44%). Of these, 84% of North American and 41% of European participants used guidelines published in their respective region. Although consensus existed on the first-line diagnostic tools (serum ceruloplasmin and baseline 24-hour urinary copper excretion), survey participants did not agree on how much liver copper content was required for diagnosis: 57% considered >250 μg/g dry weight to be consistent with WD, whereas 25% considered >50 μg/g to be diagnostic. Overall, 50% of practitioners perform genetic testing in all suspected cases, and 81% perform genetic testing once they know the genotype of an index patient. For initial treatment of fulminant WD, 51% of participants chose chelation and 15% chose immediate transplantation; 47% chose listing for transplantation followed by monitoring using a disease-severity score, and then carrying out transplantation only when the score reached a critical cut-off. To treat mildly affected siblings of index patients, 43% of practitioners chose zinc. Most reported that they use chelation to treat patients with hepatic dysfunction; however, 29% of North American participants chose not to use D-penicillamine as primary therapy. From an international perspective, pediatric hepatologists vary in the approaches they use in the care for children with WD. Regional preferences and accessibility to treatments may generate variation. Unwarranted variation, however, may also contribute to differences in outcome and should be targeted to improve quality of care.