Additional file 1 of Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers
Creators: name: Zimny, Sebastian
name: Bourhis, Hélène
name: Weber, Sabine
name: Reiter, Florian Paul
name: Hohenester, Simon
name: Kraft, Eduard
name: Mohr, Isabelle
name: Merle, Uta
name: Weiss, Karl Heinz
name: Denk, Gerald
Publisher: name: figshare
Year: 2023
Subjects: subject: Medicine
subject: Biotechnology
subject: Sociology
subject: FOS: Sociology
subject: Cancer
subject: Science Policy
subject: 110309 Infectious Diseases
subject: FOS: Health sciences

description: Additional file 1: Material 1. German university centers. Schematic map of Germany containing all centers that received our questionnaire (n = 108). The responding departments (n = 63/108, 58%) are highlighted by color for each discipline. Material 2. Number of patients with Wilson disease (WD) treated annually in an inpatient setting at German university centers subdivided into medical fields. Sixty-one departments provided data on the inpatient setting. Most departments returning our questionnaire treat no (n = 20/60, 33%) or up to five (n = 37/61, 61%) WD patients in an inpatient setting annually. Four departments reported between 6 and 10 patients annually. Material 3. Median and interquartile range (IQR; if applicable) for signs and symptoms in WD patients at the time of diagnosis in German university centers, subdivided into medical disciplines, as presented in Fig. 2. The IQR is shown as a range from Q1 (25%) to Q3 (75%). Material 4. Age distribution of WD patients at the time of diagnosis. Fifty-two departments provided data on age distribution (18 departments of pediatrics, 14 departments of neurology and 20 departments of gastroenterology). The majority (60%) of patients were older than 18 years at the time of diagnosis. In departments of neurology, 62% of patients were older than 35 years. Material 5. Application of the Leipzig score for WD diagnosis. Fifty-seven departments provided data on the Leipzig score (20 departments of pediatrics, 16 departments of neurology and 21 departments of gastroenterology). Fifty-one percent (n = 29/57) of all departments apply the Leipzig score. The proportion is higher in departments of gastroenterology (67%) than in departments of pediatrics (45%) or neurology (38%). Material 6. Median and interquartile range (IQR; if applicable) for diagnostic investigations for WD diagnosis at German university centers subdivided into medical disciplines, as presented in Fig. 3. The IQR is shown as a range from Q1 (25%) to Q3 (75%). Material 7. Frequency of routine monitoring for WD patients. Fifty-five departments provided data on the frequency of monitoring (20 departments of pediatrics, 14 departments of neurology and 21 departments of gastroenterology). Eighty-four percent (n = 46/55) of all departments see their patients at least biannually. Monitoring intervals tend to be shorter in departments of pediatrics (80% every three months, n = 16/20) than in departments of neurology (57% every 12 months or less, n = 8/14). Material 8. Frequency of monitoring investigations for WD patients in German university centers subdivided into disciplines. Up to 20 departments of pediatrics (A), 14 departments of neurology (B) and 21 departments of gastroenterology (C) provided data on their application of certain monitoring investigations, depending on the procedure. Most investigations are performed at least annually or more often. Material 9. Cessation of chelator therapy before determination of 24-h urinary copper excretion for monitoring in WD patients. Fifty departments provided data on the cessation of chelator therapy (20 departments of pediatrics, 10 departments of neurology and 20 departments of gastroenterology). Forty-eight percent (n = 24/50) pause the chelator therapy before the determination. The proportion was higher in departments of neurology and gastroenterology (together 70%, n = 21/30) than in pediatrics (15%, n = 3/20). Material 10. Medical therapy for WD patients. (A) Fifty-two departments provided data on zinc salt monotherapy (19 departments of pediatrics, 13 departments of neurology and 20 departments of gastroenterology). Zinc salt monotherapy is applied by 44% (n = 23/52) of all departments. The proportion was higher in departments of pediatrics (58%, n = 11/19) than in departments of neurology (38%, n = 5/13) and gastroenterology (35%, n = 7/20). (B) Thirty-three departments reported the usage of monotherapies alone (15 departments of pediatrics, 6 departments of neurology and 12 departments of gastroenterology). Regarding the use of chelator or zinc salt monotherapy in the departments, the mean in the departments was highest for D-penicillamine (72%). Trientine was less common (19%), and zinc salt monotherapy was rarely used (9%). (C) Fifty-four departments provided data on combination therapies (20 departments of pediatrics, 13 departments of neurology and 21 departments of gastroenterology). Zinc salt combination therapy was reported by 28% of the departments (n = 15/54). Material 11. Time point of chelator therapy reevaluation in WD patients. Fifty-three departments provided data on therapy reevaluation (19 departments of pediatrics, 13 departments of neurology and 21 departments of gastroenterology). Eighty-one percent (n = 43/53) reevaluated the therapy, mostly after up to two years (49%, n = 26/53) or between two and five years (26%, n = 14/53). The evaluation of a chelator dose reduction after up to 2 years was more frequent in departments of pediatrics than in those of neurology and gastroenterology (58%, n = 11/19 vs. 44%, n = 15/34 in departments of neurology and gastroenterology taken together). Material 12. Family screening for relatives of WD patients. Fifty-five departments provided data on family screening (20 departments of pediatrics, 14 departments of neurology and 21 departments of gastroenterology). Eighty-four (n = 46/55) of all departments perform family screening on a regular basis. The proportion was lower in departments of neurology (50%, n = 7/14) than in departments of pediatrics and gastroenterology (taken together 95%, n = 39/41). Material 13. Recommendations for WD patients during pregnancy (A) and breastfeeding (B). Twenty-four departments provided data on recommendations during pregnancy, and twenty-two departments provided recommendations during breastfeeding. Forty-six percent (n = 11/24) recommended a dose reduction during pregnancy, and 36% (n = 8/22) recommended a dose reduction during breastfeeding. In 25% (n = 6/24) and 23% (n = 5/22) of departments, respectively, there are no adjustments. Fourteen percent (n = 3/22) advised their patients to avoid breastfeeding. Material 14. Nutrition counseling for WD patients. Fifty-four departments provided data on nutrition counseling (20 departments of pediatrics, 13 departments of neurology and 21 departments of gastroenterology). A total of 63% (n = 34/54) of departments offer nutrition counseling for WD patients in their departments. The proportion was higher in departments of pediatrics (85%, n = 17/20) and gastroenterology (62%, n = 13/21) than in departments of neurology (31%, n = 4/13). Material 15. Original questionnaire. Material 16. Translation of the original questions. Material 17. Institutions participating in our survey, listed alphabetically, by medical discipline.