Family screening in Wilson disease: verifying rather than assuming implementation

Family screening is universally recommended in Wilson disease (WD) because early diagnosis allows timely treatment and better prognosis. However, data about family screening implementation in routine clinical practice and systematic verification is scarce. We aimed to assess patients' knowledge and recall regarding family screening, identify relatives with absent or uncertain screening status, and explore potential barriers.

In this prospective, single-center, nurse-led study, adults with WD underwent structured face-to-face interviews regarding the reported screening status of their first-degree relatives. Information on screening modality, patient knowledge, and perceived barriers was collected.

Fifty-four patients identified 218 first-degree relatives, including 84 siblings. According to patients' reports, 149 relatives (68.3%) had undergone WD screening, whereas 35 (16.1%) had not, and the screening status of 34 (15.6%) was unknown. Targeted ATP7B genetic testing was reported as the most common screening strategy (72.5%). Seven new WD cases had been previously identified through family screening. Reported family screening was more frequent among patients diagnosed during childhood compared to adulthood (79.8% vs. 55.8%; P<0.001), whereas lower family screening rates were reported in late diagnosis (above 40 years of age) than in earlier diagnosis (47.6% vs. 70.6%; P=0.046).

A structured nurse-led assessment identified a substantial proportion of first-degree relatives with reported absent or uncertain screening status despite current recommendations. Rather than assuming cascade screening has been completed, systematic verification and documentation during routine follow-up may help identify missed opportunities for family evaluation and improve implementation of guideline-recommended screening in WD.