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Global prevalence of Wilson’s disease is estimated to be between 1 in 10,000 and 1 in 30,000 people.1

Studies have found prevalence of the genetic mutations associated with Wilson’s disease to be up to four times higher than current disease prevalence estimates,2 which suggests the disease may be underdiagnosed.3

A 2012 survey across six European countries found that half of people diagnosed with Wilson’s disease waited more than six months for a diagnosis, and one fifth waited between one and three years.4

Approximately half of people with Wilson’s disease reported being initially misdiagnosed.4

If left untreated, Wilson’s disease can progress to acute liver failure, which may require costly liver transplantation.5-7 A study in Germany that examined hospitalisations for Wilson’s disease in 2017 found that, although fewer than 10% of inpatients received a liver transplant, they accounted for almost 50% of the total annual inpatient costs associated with the disease.8

Between 20% and 45% of people do not follow their treatment regimen for an extended period of time, despite Wilson’s disease requiring lifelong treatment to avoid serious complications and premature death.9-12

Non-adherence can result in the worsening of neurological symptoms in 10­­–50% of people.13 14

Side effects have been reported to lead to approximately 30% of people living with Wilson’s disease discontinuing their treatment.13

A study conducted in Poland found that people living with Wilson’s disease who presented with neurological symptoms were less likely to progress through education and were less able to work than the general population.10

People who receive an early diagnosis, timely initiation of lifelong treatment, and long-term regular monitoring can have a similar quality of life and life expectancy to the general population.15

Because Wilson’s disease is rare, awareness among healthcare professionals can be low.16

There is no single test that can establish a diagnosis for Wilson’s disease.17 Diagnosis involves a healthcare professional considering a number of clinical assessments combined with biomarker testing.9 15 18

References

  1. Liu J, Luan J, Zhou X, et al. 2017. Epidemiology, diagnosis, and treatment of Wilson’s disease. Intractable Rare Dis Res 6(4): 249-55

  2. Sandahl TD, Laursen TL, Munk DE, et al. 2020. The Prevalence of Wilson’s Disease: An Update. Hepatology 71(2): 722-32

  3. Woimant F, Djebrani-Oussedik N, Collet C, et al. 2018. The hidden face of Wilson’s disease. Revue Neurologique 174(9): 589-96

  4. EuroWilson. 2012 Patient Survey. Available from: http://www.eurowilson.org/rc/org/eurowilson/nws/News/2013/20130103-130755-304/src/nws_summary/en/Patient%20Survey%202012%20-%20Final%20Results(1).pdf [Accessed 08/07/24]

  5. Pfister E-D, Karch A, Adam R, et al. 2018. Predictive Factors for Survival in Children Receiving Liver Transplants for Wilson’s Disease: A Cohort Study Using European Liver Transplant Registry Data. Liver Transpl 24(9): 1186-98

  6. Socha P, Janczyk W, Dhawan A, et al. 2018. Wilson’s Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 66(2): 334-44

  7. itwin T, Dusek P, Skowrońska M, et al. 2019. Treatment of Wilson’s disease – an update. Expert Opin Orphan Drugs 7(6): 287-94

  8. Wahler S, Koll C, Wahler P, et al. 2019. PDB77 Wilson’s Disease: Cost of Hospitalisation in Germany. Value Health: 10.1016/j.jval.2019.09.959

  9. Kasztelan-Szczerbinska B, Cichoz-Lach H. 2021. Wilson’s Disease: An Update on the Diagnostic Workup and Management. J Clin Med 10(21): 5097

  10. Maselbas W, Litwin T, Członkowska A. 2019. Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence. Orphanet J Rare Dis: 10.1186/s13023-019-1133-2

  11. Członkowska A, Litwin T. 2015. Treatment of Wilson’s disease – another point of view. Expert Opin Orphan Drugs 3(3): 239-43

  12. Dzieżyc K, Karliński M, Litwin T, et al. 2014. Compliant treatment with anti-copper agents prevents clinically overt Wilson’s disease in pre-symptomatic patients. Eur J Neurol 21(2): 332-7

  13. European Association for the Study of the Liver. 2012. EASL Clinical Practice Guidelines: Wilson’s disease. J Hepatol 56(3): 671-85

  14. Roatta C. 2022. What is the impact of medical treatment on the daily lives of French patients with Wilson’s disease? Wilson Aarhus; May, 2022; Aarhrus, Denmark

  15. Socha P, Członkowska A, Janczyk W, et al. 2021. Wilson’s disease – management and long term outcomes. Best Pract Res Clin Gastroenterol: 10.1016/j.bpg.2021.101768

  16. Poujois A, Woimant F. 2019. Challenges in the diagnosis of Wilson disease. Ann Transl Med: 10.21037/atm.2019.02.10

  17. Ryan A, Nevitt SJ, Tuohy O, et al. 2019. Biomarkers for diagnosis of Wilson’s disease. Cochrane Database Syst Rev: 10.1002/14651858.CD012267.pub2

  18. Ferenci P. 2014. Whom and how to screen for Wilson disease. Expert Rev Gastroenterol Hepatol 8(5): 513-20