A new study published in the Orphanet Journal of Rare Disease has highlighted the quality of medical care for patients with Wilson Disease (WD) in Germany.

The researchers found that medical care of patients with WD at German university centers strictly follows the recommendations set by international guidelines; however, only a few centers treat larger numbers of patients signifying the imbalance of expertise in WD care. Moreover, the patients’ surveillance does not follow the specified standards, but most departments adhere to the accepted guidelines.

In the present study, a team of researchers from the University Hospital in Munich, Germany, analyzed the medical care of patients with WD at German university centers.

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The researchers sent a survey containing 20 questions to 108 departments of gastroenterology, neurology, and pediatrics in 36 university hospitals. The questions referred to the medical care of patients with WD, their characteristics at various locations, therapy, internal protocols regarding diagnosis, and follow-up. A descriptive statistical analysis was performed to examine the distribution, central tendency, and variability of the collected data.

Survey results showed that 63 departments (58%) returned the survey. It was found that approximately 33% of the estimated patients with WD in Germany visit outpatient clinics of these departments (approximately 950 patients) annually. Only a few departments treat patients in a multidisciplinary setting (12%), while for diagnosis, 51% of departments use algorithms based on the Leipzig score as endorsed by international guidelines.

In addition, most departments were found to apply the key parameters recommended by WD guidelines. Moreover, 84% of the departments performed routine monitoring at least biannually, and these departments regularly applied standard investigations for monitoring.

Notably, routine family screening was performed by 84% of departments, while a reduction in medical therapy during pregnancy was recommended by 46% of departments. Only 14% of departments proposed that patients with WD should not breastfeed. Furthermore, liver transplantation (LT) due to WD was found to be rare; however, it was a repeatedly occurring event in most of the departments.

“Taken together, the medical care of WD patients in Germany follows recommendations by international guidelines. Nevertheless, there are only a few institutions which utilize a multidisciplinary approach,” the authors added.

Further recommended establishing larger multidisciplinary centers for treating patients with WD, the study team noted.

WD is an autosomal recessive inherited disorder of copper metabolism mediated by mutations of the ATP7B gene on chromosome 13q and has an estimated prevalence of approximately 1:30,000 in Germany.

The disease is characterized by copper deposition in the cornea leading to hepatic abnormalities such as acute liver failure and liver cirrhosis and impairment of the central nervous system with neurologic manifestations such as tremors and ataxia, as well as several psychiatric symptoms. Lifetime therapy and proper monitoring are vital to avoid this disease’s otherwise progressive copper deposition and subsequent fatal outcome. 


Zimny, S, Bourhis, H, Weber S. et al. Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers. Orphanet J Rare Dis. Published online May 24, 2023. doi:10.1186/s13023-023-02731-4