fig6

Figure 6. Screening for Wilson disease in first-degree relatives of a diagnosed individual (proband). The initial step involves identifying all first-degree relatives. If the proband’s genotype related to Wilson disease (ATP7B) is known, genetic testing serves as the most effective screening method. In cases where the genotype is not available, clinical assessments are necessary. Should clinical evaluations yield inconclusive results and genetic testing not an option, a follow-up noninvasive assessment should be conducted after 6 to 12 months. A treatment trial may also be considered at this stage. Genetic testing entails analyzing the ATP7B gene sequence to check for disease-associated mutations on each allele. This scheme was adapted from^[4]. ATP7B: Adenosine triphosphatase copper-transporting beta; CPN: ceruloplasmin; INR: international normalized ratio; Cu: copper.