Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers

Orphanet Journal of Rare Diseases

Research

Uta Merle¹  Isabelle Mohr¹  Sebastian Zimny²  Simon Hohenester²  Sabine Weber²  Hélène Bourhis²  Florian Paul Reiter³  Gerald Denk⁴  Eduard Kraft⁵  Karl Heinz Weiss⁶ 

[1]Department of Internal Medicine IV, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany

[2]Department of Medicine II, University Hospital, LMU Munich, Marchioninistraße 15, 81377, Munich, Germany

[3]Department of Medicine II, University Hospital, LMU Munich, Marchioninistraße 15, 81377, Munich, Germany

[4]Department of Medicine II, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany

[5]Department of Medicine II, University Hospital, LMU Munich, Marchioninistraße 15, 81377, Munich, Germany

[6]Transplant Center, University Hospital, LMU Munich, Marchioninistraße 15, 81377, Munich, Germany

[7]Department of Physical Medicine and Rehabilitation, University Hospital, LMU Munich, Marchioninistraße 15, 81377, Munich, Germany

[8]Internal Medicine, Salem Medical Center, Zeppelinstraße 11 – 33, 69121, Heidelberg, Germany

关键词: Wilson disease;    Medical care;    Surveillance;   

DOI  :  10.1186/s13023-023-02731-4

 received in 2022-10-20, accepted in 2023-05-14,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundWilson disease (WD) is a rare, hereditary disorder of copper metabolism. Due to its variable symptoms and manifestations, diagnosis remains challenging. Affected patients must obtain lifelong medical treatment, as the disease is fatal if untreated. Patients require continuous monitoring, but little is known about the care of these patients in Germany. Therefore, we analyzed the medical care of WD patients at German university centers. We sent a questionnaire containing 20 questions to a total of 108 departments of pediatrics, neurology and gastroenterology in 36 university hospitals. Our questions referred to the characteristics of WD patients at the different sites and internal procedures regarding diagnosis, therapy and follow-up. A descriptive statistical analysis was performed.ResultsSixty-three departments (58%) returned our questionnaire. In total, approximately one-third of the estimated WD patients in Germany are seen annually in the outpatient clinics of these departments (approx. 950 patients). There are only a few departments which treat patients in a multidisciplinary setting (12%). Our survey revealed that for diagnosis, 51% of all departments used an algorithm based on the Leipzig score as recommended by international guidelines. Most departments apply essential parameters recommended by WD guidelines. Routine monitoring is performed at least biannually by 84% of the departments, and standard investigations for monitoring are regularly applied. A routine family screening is performed by 84% of all departments. A reduction in medical therapy during pregnancy is recommended by 46% of the departments. Only 14% suggested that WD patients should not breastfeed. Liver transplantation (LT) due to WD is a rare but repeatedly occurring event. Most departments of gastroenterology (72%) reported at least one patient with LT within the last decade.ConclusionsMedical care of WD patients at German university centers follows the recommendations set forth by international guidelines, but only a few centers treat significant numbers of patients. The surveillance of patients does not follow specified standards, but most departments adhere to the accepted guidelines. The formation of central units and networks in a multidisciplinary setting should be evaluated to improve the care of WD patients.

【 授权许可】

CC BY   
© The Author(s) 2023

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