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Wilson Disease (WD)

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Epidemiology

Wilson disease is a rare disorder, inherited in an autosomal-recessive fashion, characterized by an excessive accumulation of copper throughout the body. Commonly affected tissues include those of the liver, brain, and eyes.1

Prevalence

The World Health Organization estimates the global prevalence of Wilson disease to be 1 per 10,000 to 30,000 individuals, affecting between 10 to 30 million people worldwide.2-5 Orphanet projects a global prevalence of between 1 and 9 per 100,000 individuals, with variations depending on geographical region.6 

The prevalence of Wilson disease in the United States is 1 per 30,000 individuals.2 

Geographical Location

In Australia, Wilson disease affects 1 in every 100,000 people, whereas in Japan, it affects 1 in every 30,000 people.2 A higher prevalence of Wilson disease has been observed in isolated populations; the highest prevalence, 1 in every 15 live births, has been reported in a small mountain village in Crete. The increased prevalence of Wilson disease was due to high rates of consanguinity in the isolated area.7,8 

A study conducted in Hong Kong between 2000 and 2016 reported an average annual incidence rate of 1.44 per million person-years, with annually decreasing trends, and a prevalence of 17.93 per million, with annually increasing trends.9 

In South Korea between 2000 and 2016, the prevalence was 38.7 per million. Prognosis of Wilson disease correlated with age, liver failure, and liver cirrhosis. Many patients showed psychiatric and neurologic symptoms prior to their diagnosis of Wilson disease.10 Regions in Asia also demonstrate increased prevalence of Wilson disease due to higher rates of consanguinity.2,11   

Carrier Frequency

An estimated 1 in every 90 people carry abnormal copies of the ATP7B gene.2,7

Gender

Sources present conflicting evidence regarding predisposition to Wilson disease according to gender. Some suggest that men and women are equally affected.3,12 Several studies have demonstrated that acute liver failure in the fulminant subtype of Wilson disease occurs more frequently in women than in men.2,3,7,13-15 One study reported that the hepatic form of the disease occurs more frequently in women,13 whereas another study stated that the hepatic form was more frequent in men in the study cohort.16 The neuropsychiatric form of Wilson disease developed more frequently and earlier in men than in women.13,16 Researchers have speculated that the gender differences in which the neuropsychiatric form of Wilson disease developed approximately 2 years later in women than in men were due to the protective effects of estrogen and differences in iron metabolism.13  

Age

Wilson disease may manifest at any age; however, it most frequently appears in persons between the ages of 5 and 35 years,5 although it has been diagnosed in individuals younger than 2 and older than 70 years.17 

Patients with an early onset at a relatively young age typically present with hepatic symptoms, whereas those with a later onset present with neurological symptoms.2,17 

Ethnicity

Wilson disease occurs in all races and ethnic groups.3 In Caucasians, the prevalence is 1 per 28,000 to 50,000 people. In studies conducted in Asia, the prevalence ranges from 1 per 3000 to 30,000, a finding suggesting that the predisposition to Wilson disease in more common in Asia than in Europe.17 

Isolated communities with higher rates of consanguinity, such as those in Sardinia, and a small mountain village in Crete have reported high prevalence rates of Wilson disease. Studies regarding the prevalence of Wilson disease in Africa, India, South America, and mainland China have not been published.17

References

  1. Wilson disease. MedlinePlus. Accessed September 7, 2022.
  2. Gilroy RK. Wilson disease: epidemiology. Medscape. Updated February 14, 2019. Accessed September 7, 2022.
  3. Wilson disease. NORD. Accessed September 7, 2022.
  4. Liu J, Luan J, Zhou X, Cui Y, Han J. Epidemiology, diagnosis, and treatment of Wilson’s disease. Intractable Rare Dis Res. 2017;6(4):249-255. doi:10.5582/irdr.2017.01057
  5. Lucena-Valera A, Perez-Palacios D, Muñoz-Hernandez R, Romero-Gómez M, Ampuero J. Wilson’s disease: revisiting an old friend.  World J Hepatol. 2021;13(6):634-649. doi:10.4254/wjh.v13.i6.634
  6. Wilson disease. Orphanet. Accessed September 7, 2022. 
  7. Schilsky ML. Wilson disease: epidemiology and pathogenesis. UpToDate. Accessed September 7, 2022.
  8. Dedoussis GVZ, Genschel J, Sialvera TE, et al. Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet. 2005;69(Pt 3):268-274. doi:10.1046/j.1529-8817.2005.00171.x
  9. Cheung KS, Seto WK, Fung J, Mak LY, Lai CL, Yuen MF. Epidemiology and natural history of Wilson’s disease in the Chinese: a territory-based study in Hong Kong between 2000 and 2016. World J Gastroenterol. 2017;23(43):7716-7726. doi:10.3748/wjg.v23.i43.7716
  10. Choe EJ, Choi JW, Kang M, et al. A population-based epidemiology of Wilson’s disease in South Korea between 2010 and 2016. Sci Rep. 2020;10(1):14041. doi:10.1038/s41598-020-70976-1
  11. Chu NS, Hung TP. Geographic variations in Wilson’s disease. J Neurol Sci. 1993;117(1-2):1-7. doi:10.1016/0022-510x(93)90145-o
  12. Lau JY, Lai CL, Wu PC, Pan HY, Lin HJ, Todd D. Wilson’s disease: 35 years’ experience. Q J Med. 1990;75(278):597-605.
  13. Litwin T, Gromadzka G, Członkowska A. Gender differences in Wilson’s disease. J Neurol Sci. 2012;312(1-2):31-35. doi:10.1016/j.jns.2011.08.028
  14. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long‐term outcome of Wilson’s disease: a cohort study. Gut. 2007;56(1):115-120. doi:10.1136/gut.2005.087262
  15. Sandahl TD, Ott P. Epidemiology of Wilson disease. In: Weiss KH, Schilsky M, eds. Wilson Disease. Academic Press; 2019:85-94. doi:10.1016/B978-0-12-811077-5.00007-4
  16. Li X, Feng Z, Tang W, et al. Sex differences in clinical characteristics and brain MRI change in patients with Wilson’s disease in a Chinese population. Front Physiol. 2018;09 Oct. doi:10.3389/fphys.2018.01429 
  17. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111. doi:10.1002/hep.22261

Reviewed by Debjyoti Talukdar, MD, on 10/24/2022.

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