Table S1. Summary of guideline recommendations in WD.
Society guidelines | Diagnosis | Treatment | Special circumstances | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Diagnostic testing | Diagnosis of ALF due to WD | Family screening | Medical therapy | Treatment monitoring | Transplant | ALF | Pregnancy | Surgery | |||
AASLD 2008 | Clinical and biochemical algorithmic approach | Laboratory and clinical assessment | Siblings: genetic testing*. Children, other first-degree relatives: clinical assessment |
Initial: chelator +/− zinc. Maintenance and asymptomatic: chelator or zinc |
24-hour urine copper | Indication: decompensated cirrhosis, not primarily for neuropsychiatric disease | Bridging therapies, transplant | Dose-reduction of chelator, no adjustment for zinc | Dose-reduction of chelator, no adjustment for zinc | ||
EASL 2012 | Leipzig score | Laboratory and clinical assessment | First-degree relatives: genetic testing |
Initial: chelator. Maintenance and asymptomatic: chelator or zinc |
24-hour urine copper | Indication: decompensated cirrhosis, not primarily for neuropsychiatric disease. Prognosis: revised King’s Wilson score | Transplant | Dose-reduction of chelator, no adjustment for zinc | – | ||
ESPGHAN 2018 | Clinical and biochemical algorithm and Leipzig score | Laboratory and clinical assessment | First-degree relatives: clinical assessment and genetic testing* |
Initial: chelator +/− zinc. Maintenance and asymptomatic: zinc |
24-hour urine copper. If zinc therapy: serum zinc, 24-hour urine zinc | Indication: decompensated cirrhosis, exclude severe neuropsychiatric disease. Prognosis: revised King’s Wilson score | Bridging therapies, transplant | – | – |
*, if genetic testing unavailable, standard biochemical and clinical testing. WD, Wilson disease.