Materiały źródłowe

• #1 Epidemiology, diagnosis, and treatment of Wilson’s disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5735277/

  Wilson’s disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The prevalence of WD in China is higher than that in Western countries. […] The WHO estimates that the global prevalence of WD is 1/10,000 to 1/30,000. The prevalence of WD is higher in China than in the West. […] The incidence of WD was 1.96/100,000 and the prevalence was 5.87/100,000. […] According to a haplotype analysis of 660 participants in Hong Kong, the incidence of WD among Chinese was estimated to be 1/5,400, which indicates that the average mortality rate of Chinese patients with WD is higher than that in the American or European population. […] The molecular epidemiology of ATP7B in these populations has also been confirmed by the fact that WD is more prevalent in Asians than Caucasians. […] While the most common mutation in Europe and North America is p.H1069Q, the most common mutation in Asia is p.Arg778L. […] At present, the prevalence of WD is higher in China than in other countries, and research has made less progress than it has abroad.

• #2 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations, although data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021. […] Assuming a prevalence of 1 in 10,000 to 30,000, approximately one person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births. […] Additionally, a study using data from a large French cohort found that approximately one person in 31 is a heterozygous carrier, and this corresponds to an expected disease prevalence of one case in 1000 live births. The discrepancy between the heterozygous carrier frequency and the observed prevalence of Wilson disease suggests incomplete penetrance, but further study of disease-specific mutations is needed.

• #3 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  This disease affects 1 in every 30,000 individuals, with a carrier frequency of 1 in every 90 people. An equal predilection between males and females is demonstrated in patients with Wilson disease. The usual age of presentation is between the first and fourth decades of life, but it has been detected in children as young as 3 and adults as old as 70.[2] […] Wilson disease is rare and, if not recognized or treated, can be fatal. […] Early detection and lifelong management are critical for improving patient outcomes.

• #4 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  In the United States, the carrier frequency is 1 per 90 individuals. The prevalence of Wilson disease is 1 per 30,000 individuals. […] Worldwide, the incidence of Wilson disease is 10-30 million cases, and the heterozygote carrier rate is 1 case per 100 persons, with the genetic mutation frequency varying from 0.3%-0.7%. In Japan, the rate is 1 case per 30,000 population, compared with 1 case per 100,000 population in Australia. The increased frequency in certain countries is due to high rates of consanguinity. Although there is no sex predominance, the fulminant presentation of Wilson disease is more common in females than in males. […] A German study of patients with Wilson disease illustrated that patients presenting earlier show predominantly hepatic symptoms (15.5 [9.6] y), while those presenting later more often present with neurological symptoms (20.2 [10.8] y). Thomas and colleagues reviewed the mutations found in the ATP7B gene, and their findings suggested a wide age span in the onset of Wilson disease, perhaps wider than previously considered typical. Mutations that completely disrupt the gene can produce liver disease in early childhood, at a time when Wilson disease may not be considered in the differential diagnosis. In general, the upper age limit for considering Wilson Disease is 40 years and the lower age limit is 5 years, although the disorder has been detected in children younger than 3 years and in adults older than 70 years.

• #5 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations, although data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021. […] Assuming a prevalence of 1 in 10,000 to 30,000, approximately one person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births. […] Additionally, a study using data from a large French cohort found that approximately one person in 31 is a heterozygous carrier, and this corresponds to an expected disease prevalence of one case in 1000 live births. The discrepancy between the heterozygous carrier frequency and the observed prevalence of Wilson disease suggests incomplete penetrance, but further study of disease-specific mutations is needed.

• #6 Wilson Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/wilson-disease

  Wilson disease is rare. While older studies have estimated 1 in 30,000 people worldwide have it, newer studies of people’s genes show it may be more common, and one study in the United Kingdom showed as many as 1 in 7,000 people have the gene mutation that is associated with Wilson disease. […] Spreading awareness of this disease among physicians is key because if you dont think about it, you never diagnosis it. And early diagnosis can prevent disease progression. […] When it comes to treating Wilson disease, Yale Medicine is a worldwide leader and one of only a few sites around the world participating in clinical trials for this disorder.

• #7 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations, although data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021. […] Assuming a prevalence of 1 in 10,000 to 30,000, approximately one person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births. […] Additionally, a study using data from a large French cohort found that approximately one person in 31 is a heterozygous carrier, and this corresponds to an expected disease prevalence of one case in 1000 live births. The discrepancy between the heterozygous carrier frequency and the observed prevalence of Wilson disease suggests incomplete penetrance, but further study of disease-specific mutations is needed.

• #8 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations, although data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021. […] Assuming a prevalence of 1 in 10,000 to 30,000, approximately one person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births. […] Additionally, a study using data from a large French cohort found that approximately one person in 31 is a heterozygous carrier, and this corresponds to an expected disease prevalence of one case in 1000 live births. The discrepancy between the heterozygous carrier frequency and the observed prevalence of Wilson disease suggests incomplete penetrance, but further study of disease-specific mutations is needed.

• #9

  https://jddtonline.info/index.php/jddt/article/view/5982

  One in 90 people in the general population are carriers of Wilson’s illness. […] The family members of persons with the condition may be screened via genetic testing. […] For Wilson’s disease to be stopped in its tracks, early detection is essential. […] Thomas Damgaard Sandahl, MD, PhD, Peter Ott, Chapter 7 – Epidemiology of Wilson Disease, Wilson Disease, Academic Press, 2019: 85-94. […] Collet C, Laplanche JL, Page J, et al. High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence. BMC Medical Genetics, 2018; 19(1):143. […] Lorente-Arencibia, P., Garca-Villarreal, L., Gonzlez-Montelongo, R., Rubio-Rodrguez, L. A., Flores, C., Garay-Snchez, P., delaCruz, T., Santana-Verano, M., Rodrguez-Esparragn, F., Benitez-Reyes, J. N., Fernndez-Fuertes, F., Tugores, A. Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency. Journal of pediatric gastroenterology and nutrition, 2022; 74(2):192-199. […] Michael L Schilsky, MD, FAASLD, Wilson disease: Epidemiology and pathogenesis, UptoDate.com, Feb 18, 2022.

• #10 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations, although data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021. […] Assuming a prevalence of 1 in 10,000 to 30,000, approximately one person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births. […] Additionally, a study using data from a large French cohort found that approximately one person in 31 is a heterozygous carrier, and this corresponds to an expected disease prevalence of one case in 1000 live births. The discrepancy between the heterozygous carrier frequency and the observed prevalence of Wilson disease suggests incomplete penetrance, but further study of disease-specific mutations is needed.

• #11 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Wilson disease is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations, although data from population screening by molecular sequencing in the United Kingdom suggest a potentially higher prevalence, perhaps as frequent as 1 case in 7021. […] Assuming a prevalence of 1 in 10,000 to 30,000, approximately one person in 90 carries an abnormal copy of the ATP7B gene. However, in some isolated populations, the prevalence is much higher. One of the highest reported prevalences was from a small mountain village on the island of Crete, where Wilson disease was diagnosed in 1 in 15 births. […] Additionally, a study using data from a large French cohort found that approximately one person in 31 is a heterozygous carrier, and this corresponds to an expected disease prevalence of one case in 1000 live births. The discrepancy between the heterozygous carrier frequency and the observed prevalence of Wilson disease suggests incomplete penetrance, but further study of disease-specific mutations is needed.

• #12 Epidemiology, diagnosis, and treatment of Wilson’s disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5735277/

  Wilson’s disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The prevalence of WD in China is higher than that in Western countries. […] The WHO estimates that the global prevalence of WD is 1/10,000 to 1/30,000. The prevalence of WD is higher in China than in the West. […] The incidence of WD was 1.96/100,000 and the prevalence was 5.87/100,000. […] According to a haplotype analysis of 660 participants in Hong Kong, the incidence of WD among Chinese was estimated to be 1/5,400, which indicates that the average mortality rate of Chinese patients with WD is higher than that in the American or European population. […] The molecular epidemiology of ATP7B in these populations has also been confirmed by the fact that WD is more prevalent in Asians than Caucasians. […] While the most common mutation in Europe and North America is p.H1069Q, the most common mutation in Asia is p.Arg778L. […] At present, the prevalence of WD is higher in China than in other countries, and research has made less progress than it has abroad.

• #13 Epidemiology, diagnosis, and treatment of Wilson’s disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5735277/

  Wilson’s disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The prevalence of WD in China is higher than that in Western countries. […] The WHO estimates that the global prevalence of WD is 1/10,000 to 1/30,000. The prevalence of WD is higher in China than in the West. […] The incidence of WD was 1.96/100,000 and the prevalence was 5.87/100,000. […] According to a haplotype analysis of 660 participants in Hong Kong, the incidence of WD among Chinese was estimated to be 1/5,400, which indicates that the average mortality rate of Chinese patients with WD is higher than that in the American or European population. […] The molecular epidemiology of ATP7B in these populations has also been confirmed by the fact that WD is more prevalent in Asians than Caucasians. […] While the most common mutation in Europe and North America is p.H1069Q, the most common mutation in Asia is p.Arg778L. […] At present, the prevalence of WD is higher in China than in other countries, and research has made less progress than it has abroad.

• #14 Epidemiology, diagnosis, and treatment of Wilson’s disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5735277/

  Wilson’s disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The prevalence of WD in China is higher than that in Western countries. […] The WHO estimates that the global prevalence of WD is 1/10,000 to 1/30,000. The prevalence of WD is higher in China than in the West. […] The incidence of WD was 1.96/100,000 and the prevalence was 5.87/100,000. […] According to a haplotype analysis of 660 participants in Hong Kong, the incidence of WD among Chinese was estimated to be 1/5,400, which indicates that the average mortality rate of Chinese patients with WD is higher than that in the American or European population. […] The molecular epidemiology of ATP7B in these populations has also been confirmed by the fact that WD is more prevalent in Asians than Caucasians. […] While the most common mutation in Europe and North America is p.H1069Q, the most common mutation in Asia is p.Arg778L. […] At present, the prevalence of WD is higher in China than in other countries, and research has made less progress than it has abroad.

• #15 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  In the United States, the carrier frequency is 1 per 90 individuals. The prevalence of Wilson disease is 1 per 30,000 individuals. […] Worldwide, the incidence of Wilson disease is 10-30 million cases, and the heterozygote carrier rate is 1 case per 100 persons, with the genetic mutation frequency varying from 0.3%-0.7%. In Japan, the rate is 1 case per 30,000 population, compared with 1 case per 100,000 population in Australia. The increased frequency in certain countries is due to high rates of consanguinity. Although there is no sex predominance, the fulminant presentation of Wilson disease is more common in females than in males. […] A German study of patients with Wilson disease illustrated that patients presenting earlier show predominantly hepatic symptoms (15.5 [9.6] y), while those presenting later more often present with neurological symptoms (20.2 [10.8] y). Thomas and colleagues reviewed the mutations found in the ATP7B gene, and their findings suggested a wide age span in the onset of Wilson disease, perhaps wider than previously considered typical. Mutations that completely disrupt the gene can produce liver disease in early childhood, at a time when Wilson disease may not be considered in the differential diagnosis. In general, the upper age limit for considering Wilson Disease is 40 years and the lower age limit is 5 years, although the disorder has been detected in children younger than 3 years and in adults older than 70 years.

• #16 Wilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study | BMJ Open

  https://bmjopen.bmj.com/content/14/12/e089032

  Objectives To describe the epidemiology, patient characteristics and comorbidities in patients with Wilson disease (WD) in the USA. […] Overall, 2115 patients with WD were identified during the study period. […] Prevalence estimation was based on 1481 patients with WD between 2017 and 2019. The 20172019 crude period prevalence was 21.2 patients per million (95% CI: 20.1 to 22.3), with similar prevalence observed for both sexes. […] This study provides important real-world data on the diagnosed prevalence of WD in the USA and revealed the comorbidities associated with various disease subtypes, thereby providing a comprehensive basis for guiding physicians and policy makers in the management of this chronic disease. […] The crude period prevalence peaked among young adults in the 18 to 39 years age group (27.1 per million, 95% CI: 24.7 to 29.5), followed closely by adults 40 to 64 years old (26.1 per million, 95% CI: 24.0 to 28.2).

• #17 Wilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study | BMJ Open

  https://bmjopen.bmj.com/content/14/12/e089032

  Adjusted period prevalence was calculated using age-specific prevalence standardised to the USA (2010 US census) and to the world (WHO 20002025). Between 2017 and 2019, both the US-adjusted and WHO-adjusted period prevalences were similar (22.0 per million, 95% CI: 20.9 to 23.1 and 21.4 per million, 95% CI: 20.4 to 22.5, respectively) to the crude period prevalence observed in this study.

• #18 Epidemiology of Wilson disease in Germany – real-world insights from a claims data study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03351-2

  Wilson disease (WD) is a rare disorder of copper metabolism, causing copper accumulation mainly in the liver and the brain. The prevalence of WD was previously estimated around 20 to 33.3 patients per million for the United States, Europe, and Asia, but data on the prevalence of WD in Germany are limited. […] Average prevalence was 20.3 patients per million (range: 17.8-24.4), with similar results for two-year prevalence. Generally, prevalence increased steadily over the study period. […] This study adds valuable real-world data on the prevalence and patient characteristics of WD in Germany. […] Still, regional and temporal trends remain to be investigated more thoroughly to further the understanding of the natural history and epidemiology of this rare disease. […] We observed a mean prevalence of 20.3 patients per million, which steadily increased from 17.8 to 24.4 per million during the study period from 2013 to 2018, and was also observed when assessing two-year prevalences. […] While we observed slightly higher prevalence than previously estimated for Germany, our findings align with other reports of WD epidemiology at large.

• #19 A population-based epidemiology of Wilson’s disease in South Korea between 2010 and 2016 | Scientific Reports

  https://www.nature.com/articles/s41598-020-70976-1

  Very few population-based studies have examined the epidemiology of Wilsons disease (WD). We investigated the epidemiology of WD using the National Health Insurance Service (NHIS) database in South Korea. […] A total of 1,333 patients were identified. The average annual incidence rate was 3.8 per million person-years. The prevalence was 38.7 per million people. […] Most patients with WD are diagnosed before they are 40 years old, although WD has been reported at ages from 2 to 80 years. […] In our study, the average annual incidence rate of WD was 3.8 per million person-years. This is comparable to that reported in other recent population-based studies in Asian countries. The average annual prevalence of WD was 38.7 per million people. […] The prevalence of WD increased annually in both sexes, 28 per million people in 2010, 31.5 in 2011, 36 in 2012, 39.3 in 2013, 42.5 in 2014, 45.2 in 2015, and 48.1 in 2016. […] Therefore, we predict that the prevalence will continue to increase, even if there is no change in the incidence rate.

• #20 :: JKMS :: Journal of Korean Medical Science

  https://jkms.org/DOIx.php?id=10.3346/jkms.2024.39.e115

  Wilsons disease (WD) is an autosomal recessive disorder in which copper (Cu) accumulates in organs, particularly in the liver and central nervous system. This study aimed to investigate the prevalence, incidence, and treatment patterns of WD patients in Korea. […] The average age- and sex-adjusted prevalence and incidence of WD between 2010 and 2020 were 3.06/100,000 and 0.11/100,000, respectively. […] The prevalence of WD in Korea is 3.06/100,000 and approximately 1,800 patients use medical services annually. […] The worldwide prevalence of WD has been reported to be 1:30,0001:50,000. […] A previous study conducted in South Korea and comparable to ours reported a high WD prevalence of 1:25,839. […] Our data revealed a gradual rise in the detection of WD in South Korea as of late.

• #21 Epidemiology and natural history of Wilson’s disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016

  https://www.wjgnet.com/1007-9327/full/v23/i43/7716.htm

  AIM To investigate the epidemiology and natural history of Wilsons disease in the Chinese. […] We identified 211 patients (male cases 104; female cases 107; median age 27.2 years, IQR: 17.1-38.6 years; duration of follow-up 8.0 years, IQR: 5.0-14.0 years). The average annual incidence rate was 1.44 per million person-years while the prevalence was 17.93 per million. Between 2000 and 2016, there was a decrease in the annual incidence rate from 1.65 to 1.23 per million person-years (P = 0.010), whereas there was an increase in the annual prevalence from 7.80 to 25.20 per million (P 0.001). […] There was a significant increase in the prevalence of Wilsons disease in Hong Kong. The prognosis was favorable except for those with cirrhosis or concomitant viral hepatitis. […] The present territory-based study was the first to describe both the epidemiology and natural history of Wilsons disease over a long period of time (a span of 17 years from 2000 to 2016) in the Chinese.

• #22 Epidemiology and natural history of Wilson’s disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016

  https://www.wjgnet.com/1007-9327/full/v23/i43/7716.htm

  The average annual incidence rate of Wilsons disease was 1.44 per million person-years. There was a decrease in the annual incidence rate from 1.65 to 1.23 per million person-years (Poisson P= 0.010) […] The average annual prevalence was 17.93 per million. The annual prevalence increased from 7.80 to 25.20 per million (Poisson P 0.001).

• #23 Quality of Life and Psychiatric Symptoms in Wilson’s Disease: the Relevance of Bipolar Disorders

  https://clinical-practice-and-epidemiology-in-mental-health.com/VOLUME/8/PAGE/102/FULLTEXT/

  The prevalence of WD in almost all ethnic groups is approximately 1:30,000 and the carriers are 1:90. WD is more frequent in communities isolated and characterized by a high consanguinity. In particular, in Sardinia [Italy] an incidence of 1/7.000 births has been found. […] The association between WD and Bipolar Disorders appears today more frequent than believed in the past, dues to the more specific diagnostic criteria allowing to include as Bipolar Disorders cases that early researchers defined schizophrenia-like psychosis or behavioral abnormalities. […] Prospective studies on large cohorts are required to establish the effective impact of psychiatric disorders, particularly Bipolar Disorder comorbidity on quality of life in WD patients and to clarify the causal link between brain damage, psychiatric disorders and worsening of QoL.

• #24 Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

  https://www.mdpi.com/1422-0067/25/4/2402

  Recent decades have seen an increase in epidemiological research. […] To date, a group of scientists from the University of Alberta (Canada) has created an extensive open computer database of pathogenic variants, which has demonstrated the uneven distribution of WD in the world with a predominance in isolates—regions where closely related marriages are practiced due to limited population migration. […] In various European countries, the level of WD registration began to reach 1:7000–10,000, which significantly exceeds the data of previous years. […] The level of detection of the ATP7B gene pathogenic variant depends not only on the geographic location of the patients’ area of residence, but also on the ethnicity of the patient. […] The analysis of indicators from epidemiological studies presented in the literature over recent decades has shown a manifold increase in the detection of WD relative to old indicators.

• #25 Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

  https://www.mdpi.com/1422-0067/25/4/2402

  Recent decades have seen an increase in epidemiological research. […] To date, a group of scientists from the University of Alberta (Canada) has created an extensive open computer database of pathogenic variants, which has demonstrated the uneven distribution of WD in the world with a predominance in isolates—regions where closely related marriages are practiced due to limited population migration. […] In various European countries, the level of WD registration began to reach 1:7000–10,000, which significantly exceeds the data of previous years. […] The level of detection of the ATP7B gene pathogenic variant depends not only on the geographic location of the patients’ area of residence, but also on the ethnicity of the patient. […] The analysis of indicators from epidemiological studies presented in the literature over recent decades has shown a manifold increase in the detection of WD relative to old indicators.

• #26 Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

  https://www.mdpi.com/1422-0067/25/4/2402

  The differences between the high level of carriage of the pathogenic variants of the ATP7B gene and the low registration of WD can be explained both by underdiagnosis, by the level of genetic research methods, and by the lack of agreement among geneticists in a unified approach to the analysis of the data obtained.

• #27 A population-based epidemiology of Wilson’s disease in South Korea between 2010 and 2016 | Scientific Reports

  https://www.nature.com/articles/s41598-020-70976-1

  Very few population-based studies have examined the epidemiology of Wilsons disease (WD). We investigated the epidemiology of WD using the National Health Insurance Service (NHIS) database in South Korea. […] A total of 1,333 patients were identified. The average annual incidence rate was 3.8 per million person-years. The prevalence was 38.7 per million people. […] Most patients with WD are diagnosed before they are 40 years old, although WD has been reported at ages from 2 to 80 years. […] In our study, the average annual incidence rate of WD was 3.8 per million person-years. This is comparable to that reported in other recent population-based studies in Asian countries. The average annual prevalence of WD was 38.7 per million people. […] The prevalence of WD increased annually in both sexes, 28 per million people in 2010, 31.5 in 2011, 36 in 2012, 39.3 in 2013, 42.5 in 2014, 45.2 in 2015, and 48.1 in 2016. […] Therefore, we predict that the prevalence will continue to increase, even if there is no change in the incidence rate.

• #28 Wilson disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/wilson-disease/

  Epidemiological data refers to the US, unless otherwise specified. […] Prevalence: 1/30,000. […] Age of onset: 535 years; (mean age 1223 years).

• #29 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Wilson disease affects an estimated 1 out of every 30,000 people. […] It’s more common among people with a family history of the condition. […] Because there are no symptoms in carriers, it’s hard to know exactly how many people in the general population have an abnormal copy of the gene. […] Early diagnosis and treatment of Wilson disease lead to the best outcome for people with this lifelong genetic condition. […] You may need to make lifestyle changes to remove copper from your diet. […] Stay up to date on visits to your healthcare provider to make sure your treatment is successful at lowering the amount of copper in your body.

• #30 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  This disease affects 1 in every 30,000 individuals, with a carrier frequency of 1 in every 90 people. An equal predilection between males and females is demonstrated in patients with Wilson disease. The usual age of presentation is between the first and fourth decades of life, but it has been detected in children as young as 3 and adults as old as 70.[2] […] Wilson disease is rare and, if not recognized or treated, can be fatal. […] Early detection and lifelong management are critical for improving patient outcomes.

• #31 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  In the United States, the carrier frequency is 1 per 90 individuals. The prevalence of Wilson disease is 1 per 30,000 individuals. […] Worldwide, the incidence of Wilson disease is 10-30 million cases, and the heterozygote carrier rate is 1 case per 100 persons, with the genetic mutation frequency varying from 0.3%-0.7%. In Japan, the rate is 1 case per 30,000 population, compared with 1 case per 100,000 population in Australia. The increased frequency in certain countries is due to high rates of consanguinity. Although there is no sex predominance, the fulminant presentation of Wilson disease is more common in females than in males. […] A German study of patients with Wilson disease illustrated that patients presenting earlier show predominantly hepatic symptoms (15.5 [9.6] y), while those presenting later more often present with neurological symptoms (20.2 [10.8] y). Thomas and colleagues reviewed the mutations found in the ATP7B gene, and their findings suggested a wide age span in the onset of Wilson disease, perhaps wider than previously considered typical. Mutations that completely disrupt the gene can produce liver disease in early childhood, at a time when Wilson disease may not be considered in the differential diagnosis. In general, the upper age limit for considering Wilson Disease is 40 years and the lower age limit is 5 years, although the disorder has been detected in children younger than 3 years and in adults older than 70 years.

• #32 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  In the United States, the carrier frequency is 1 per 90 individuals. The prevalence of Wilson disease is 1 per 30,000 individuals. […] Worldwide, the incidence of Wilson disease is 10-30 million cases, and the heterozygote carrier rate is 1 case per 100 persons, with the genetic mutation frequency varying from 0.3%-0.7%. In Japan, the rate is 1 case per 30,000 population, compared with 1 case per 100,000 population in Australia. The increased frequency in certain countries is due to high rates of consanguinity. Although there is no sex predominance, the fulminant presentation of Wilson disease is more common in females than in males. […] A German study of patients with Wilson disease illustrated that patients presenting earlier show predominantly hepatic symptoms (15.5 [9.6] y), while those presenting later more often present with neurological symptoms (20.2 [10.8] y). Thomas and colleagues reviewed the mutations found in the ATP7B gene, and their findings suggested a wide age span in the onset of Wilson disease, perhaps wider than previously considered typical. Mutations that completely disrupt the gene can produce liver disease in early childhood, at a time when Wilson disease may not be considered in the differential diagnosis. In general, the upper age limit for considering Wilson Disease is 40 years and the lower age limit is 5 years, although the disorder has been detected in children younger than 3 years and in adults older than 70 years.

• #33 Wilson disease: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis/print

  Some studies suggest that males and females are equally affected by Wilson disease, though females are more likely than males to develop acute liver failure due to Wilson disease. However, a large registry study of 627 patients with Wilson disease found that there was a slight male predominance (52 percent). At the time of diagnosis, among patients who were symptomatic, males were more likely than females to have neuropsychiatric disease (75 versus 58 percent) and were less likely to have hepatic disease (25 versus 41 percent).

• #34 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  In the United States, the carrier frequency is 1 per 90 individuals. The prevalence of Wilson disease is 1 per 30,000 individuals. […] Worldwide, the incidence of Wilson disease is 10-30 million cases, and the heterozygote carrier rate is 1 case per 100 persons, with the genetic mutation frequency varying from 0.3%-0.7%. In Japan, the rate is 1 case per 30,000 population, compared with 1 case per 100,000 population in Australia. The increased frequency in certain countries is due to high rates of consanguinity. Although there is no sex predominance, the fulminant presentation of Wilson disease is more common in females than in males. […] A German study of patients with Wilson disease illustrated that patients presenting earlier show predominantly hepatic symptoms (15.5 [9.6] y), while those presenting later more often present with neurological symptoms (20.2 [10.8] y). Thomas and colleagues reviewed the mutations found in the ATP7B gene, and their findings suggested a wide age span in the onset of Wilson disease, perhaps wider than previously considered typical. Mutations that completely disrupt the gene can produce liver disease in early childhood, at a time when Wilson disease may not be considered in the differential diagnosis. In general, the upper age limit for considering Wilson Disease is 40 years and the lower age limit is 5 years, although the disorder has been detected in children younger than 3 years and in adults older than 70 years.

• #35 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  This disease affects 1 in every 30,000 individuals, with a carrier frequency of 1 in every 90 people. An equal predilection between males and females is demonstrated in patients with Wilson disease. The usual age of presentation is between the first and fourth decades of life, but it has been detected in children as young as 3 and adults as old as 70.[2] […] Wilson disease is rare and, if not recognized or treated, can be fatal. […] Early detection and lifelong management are critical for improving patient outcomes.

• #36 Challenges and Innovations in Wilson Disease, with Michael Schilsky, MD

  https://www.hcplive.com/view/challenges-innovations-wilson-disease-with-michael-schilsky-md

  With an estimated prevalence of 1 case per 30,000 live births in most populations, Wilson disease is rare but serious, with gradual damage from copper accumulation resulting in hepatic, neurologic, and psychiatric manifestations. […] Whenever you deal with a rare disorder, and Wilson’s disease is typically present in about 1 in 30,000 individuals, the key is really recognizing the disease, Schilsky said. If we can have newborn screening, well capture a lot and that would be wonderful. If we don’t, we have to continue to raise awareness so that we can identify patients at a younger age before they develop more severe symptoms.

• #37 Wilson Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK441990/

  This disease affects 1 in every 30,000 individuals, with a carrier frequency of 1 in every 90 people. An equal predilection between males and females is demonstrated in patients with Wilson disease. The usual age of presentation is between the first and fourth decades of life, but it has been detected in children as young as 3 and adults as old as 70.[2] […] Wilson disease is rare and, if not recognized or treated, can be fatal. […] Early detection and lifelong management are critical for improving patient outcomes.

• #38 Orphanet: Wilson disease

  https://www.orpha.net/en/disease/detail/905

  The estimated prevalence at birth ranges between 1/30,000-110,000 worldwide but may be higher in isolated populations. […] Family screening identifies 20% of cases.

• #39 Population screening and diagnostic strategies in screening family members of Wilson’s disease patients

  https://atm.amegroups.org/article/view/24823/html

  Wilsons disease (WD) has a high mortality rate and disability rate, however, it is one of the treatable hereditary diseases. […] Thus it is necessary to screen WD in the family members of the proband. First-degree relatives of a proband with WD should be screened. […] In addition, regional variations exist, there is a higher prevalence in people who are isolated or have high rates of intermarriage, for example, Costa Rica, Sardinia, Canary islands and Crete. […] Therefore, it is necessary to screen WD in the population, especially in the family members of the proband with WD. […] American Association for the Study of Liver Diseases (AASLD) and European Association for the Study of the Liver (EASL) recommend screening first degree relatives of a proband. […] Even though this risk is low, screening parents and the children of a proband is justified given the potential devastating process of WD.

• #40 Wilson’s disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251

  Wilson’s disease is a rare inherited condition that causes copper levels to build up in several organs, especially the liver, brain and eyes. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35. But younger and older people can be affected too. […] You can be at greater risk of Wilson’s disease if your parents or siblings have the condition. Ask your doctor whether you should have genetic testing to find out if you have Wilson’s disease. Diagnosing the condition as early as possible greatly increases the chances of successful treatment. […] Wilson disease: Epidemiology and pathogenesis.

• #41 Population screening and diagnostic strategies in screening family members of Wilson’s disease patients

  https://atm.amegroups.org/article/view/24823/html

  Considering the underestimation of WD incidence, the probability of late-onset and asymptomatic, and differ phenotype of the same genotype, it seems vital to screen the previous and next generation of the proband. […] The probability of nephews and nieces being affected is 1 in 600, and the probability of cousins being affected is 1 in 800, which is significantly higher than that of the general population. […] These studies indicate not only first degree relative of probands must be screened for WD, but distant relatives maybe also are considered, especially in certain areas, such as some villages and small islands. […] If available, genetic analysis may be used as the primary screening method in WD family screening. […] Although family members of WD proband are highly suspected of having the same disease, the diagnosis must be based on sufficient clinical evidence and laboratory data to avoid misdiagnosis leading to unnecessary lifelong treatment and complications. […] So far, there is no reliable test for WD screening in the general population including neonates. However there have been new explorations through the study on ATP7B protein, but further research is needed.

• #42 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease occurs in about one in 30,000 people. […] The main sites of copper accumulation are the liver and brain. Consequently, liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. […] About half of the people with Wilson’s disease have neurological or psychiatric symptoms. […] Psychiatric problems due to Wilson’s disease may include behavioral changes, depression, anxiety disorders, and psychosis. […] The combination of neurological symptoms, eye signs, and a low ceruloplasmin level is considered sufficient for the diagnosis of Wilson’s disease. […] Mutation analysis of the ATP7B gene, as well as other genes linked to copper accumulation in the liver, may be performed. Once a mutation is confirmed, family members can be screened for the disease as part of clinical genetics family counseling. […] Regional distributions of genes associated with Wilson’s disease are important to follow, as this can help clinicians design appropriate screening strategies.

• #43 Population screening and diagnostic strategies in screening family members of Wilson’s disease patients

  https://atm.amegroups.org/article/view/24823/html

  Considering the underestimation of WD incidence, the probability of late-onset and asymptomatic, and differ phenotype of the same genotype, it seems vital to screen the previous and next generation of the proband. […] The probability of nephews and nieces being affected is 1 in 600, and the probability of cousins being affected is 1 in 800, which is significantly higher than that of the general population. […] These studies indicate not only first degree relative of probands must be screened for WD, but distant relatives maybe also are considered, especially in certain areas, such as some villages and small islands. […] If available, genetic analysis may be used as the primary screening method in WD family screening. […] Although family members of WD proband are highly suspected of having the same disease, the diagnosis must be based on sufficient clinical evidence and laboratory data to avoid misdiagnosis leading to unnecessary lifelong treatment and complications. […] So far, there is no reliable test for WD screening in the general population including neonates. However there have been new explorations through the study on ATP7B protein, but further research is needed.

• #44 Population screening and diagnostic strategies in screening family members of Wilson’s disease patients

  https://atm.amegroups.org/article/view/24823/html

  Considering the underestimation of WD incidence, the probability of late-onset and asymptomatic, and differ phenotype of the same genotype, it seems vital to screen the previous and next generation of the proband. […] The probability of nephews and nieces being affected is 1 in 600, and the probability of cousins being affected is 1 in 800, which is significantly higher than that of the general population. […] These studies indicate not only first degree relative of probands must be screened for WD, but distant relatives maybe also are considered, especially in certain areas, such as some villages and small islands. […] If available, genetic analysis may be used as the primary screening method in WD family screening. […] Although family members of WD proband are highly suspected of having the same disease, the diagnosis must be based on sufficient clinical evidence and laboratory data to avoid misdiagnosis leading to unnecessary lifelong treatment and complications. […] So far, there is no reliable test for WD screening in the general population including neonates. However there have been new explorations through the study on ATP7B protein, but further research is needed.

• #45 Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

  https://www.mdpi.com/1422-0067/25/4/2402

  Wilson’s disease (WD) is a severe autosomal recessive disease caused by excessive accumulation of copper in the body and its toxic effects on various organs and systems. […] According to official statistics, the prevalence of WD in the world ranges from 1 to 3 per 100,000 population: in Europe—between 1.2 and 2 per 100,000; in the USA—1 per 30,000; in Russia—1:166,600. […] Despite the rarity of detection, the contribution of this pathology to the disability of the young population reaches high levels and causes significant economic damage to healthcare. […] The most promising strategy for controlling the detection of WD is genetic screening of the country’s population and the creation of a huge registry of patients. […] By the beginning of the new millennium, the number of patients with WD in the world reached 30 million.

• #46 In the Beginning: Neonatal Screening and Management of Wilson Disease | AASLD

  https://www.aasld.org/liver-fellow-network/core-series/clinical-pearls/beginning-neonatal-screening-and-management-wilson

  Wilson’s disease (WD) is a rare genetic disorder, with an approximate incidence of 1 case per ~30,000 individuals. […] Early diagnosis and precise treatment are imperative for successful management, as untreated WD universally results in fatality. […] As per the AASLD guidelines, screening of first-degree relatives of an individual affected by Wilson disease is recommended given the variability in the age and mode of presentations. […] The widespread availability of genetic testing has led to the identification of asymptomatic infants. […] Currently there is no consensus regarding the management of infantile Wilson disease. […] Initiating surveillance in infants requires careful consideration, recognizing the challenges in obtaining blood samples. […] Assessing the liver biochemical profile of patients with genetically confirmed WD at 9-12 months, followed by serial assessment every 3-6 months, is appropriate.

• #47 In the Beginning: Neonatal Screening and Management of Wilson Disease | AASLD

  https://www.aasld.org/liver-fellow-network/core-series/clinical-pearls/beginning-neonatal-screening-and-management-wilson

  Performing a liver ultrasound between 6-12 months aids in establishing a baseline and screening for potential changes in liver echogenicity. […] The incorporation of a disease into the U.S. newborn screening panel necessitates an exhaustive assessment, encompassing factors such as disease severity, treatment efficacy, testing reliability, prevalence, disease natural history, healthcare consensus, and ethical considerations. […] Wilson disease notably aligns with and fulfills these rigorous criteria on a global scale. […] These studies support the idea of newborn screening for Wilson disease.

• #48 Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

  https://www.mdpi.com/1422-0067/25/4/2402

  Wilson’s disease (WD) is a severe autosomal recessive disease caused by excessive accumulation of copper in the body and its toxic effects on various organs and systems. […] According to official statistics, the prevalence of WD in the world ranges from 1 to 3 per 100,000 population: in Europe—between 1.2 and 2 per 100,000; in the USA—1 per 30,000; in Russia—1:166,600. […] Despite the rarity of detection, the contribution of this pathology to the disability of the young population reaches high levels and causes significant economic damage to healthcare. […] The most promising strategy for controlling the detection of WD is genetic screening of the country’s population and the creation of a huge registry of patients. […] By the beginning of the new millennium, the number of patients with WD in the world reached 30 million.

• #49 Characteristics of patients with Wilson disease in the United States: An insurance claims database study

  https://www.wjgnet.com/1948-5182/full/v16/i5/791.htm

  Compared with the American general population, the standardised mortality ratio in patients with WD was 2.19. […] This suggests that WD was associated with excess mortality, as previously reported in other recent studies elsewhere. […] Despite the study limitations, our data suggest that a significant number of patients may not be receiving best standard of care in terms of treatment, compliance, and follow-up. These findings indicate that there is a significant unmet need for effective treatment for WD in the United States.

• #50

  https://link.springer.com/article/10.1007/s12018-024-09301-7

  The comprehensive review by Lafhal and Fdil provides overview of the pathophysiology, clinical features, and different diagnostic strategies for Wilsons disease (WD), a rare and serious hereditary disorder of copper metabolism. […] As a rare, hereditary disease, Wilsons disease (WD) is not always on a healthcare providers radar. […] One thing missing from this quite comprehensive review is the descriptive epidemiology of WD. Healthcare providers and public health workers might find the statistics on incidence, prevalence, and mortality of the disease extremely useful to guide their process of diagnoses. It was reported the prevalence worldwide is about 2.23.3 per 100,000 with a carrier frequency of 1/90. […] A recent textbook reported over a 10-year period following diagnosis, there was a 76.1% chance of hospitalization and a 13.5% mortality rate. The mean life expectancy was 57.9 years.

• #51 Elastography of the Liver in Wilson’s Disease

  https://www.mdpi.com/2075-4418/13/11/1898

  Staging of liver fibrosis is important for the patient’s prognosis and surveillance. Patients with advanced fibrosis are at risk of clinical complications like ascites, variceal hemorrhage, and encephalopathy. […] The liver biopsy is used for Wilson’s disease diagnosis as well as for fibrosis staging, however, histopathological examination of the biopsy specimen enables assessment of only a small part of the liver parenchyma while lesions in the organ are distributed unevenly. […] The newly proposed magnetic resonance elastography (MRE) is based on synchronized MRI acquisition with the measurement of liver elasticity with the use of mechanical (acoustic) waves emitted by an internal device. […] The presented review aims to summarize and compare available studies on elastographic liver stiffness comparing to clinical categories and/or histopathological reports of the liver in patients with Wilson’s disease.

• #52 No Need for Cancer Watch in Cirrhotic Wilson’s Disease | MedPage Today

  https://www.medpagetoday.com/meetingcoverage/aasld/48496

  BOSTON — Patients who developed cirrhosis related to Wilson’s disease did not seem to have a higher risk for hepatocellular carcinoma (HCC), researchers said here. […] „The estimated annual risk of hepatocellular carcinoma in all our patients was 0.09%. The estimated annual risk of hepatocellular cancer in our Wilson’s disease patients with cirrhosis was 1.4%,” van Meer said at her poster presentation during the American Association for the Study of Liver Diseases annual meeting. […] As a result, van Meer’s group concluded that „our data do not support regular HCC surveillance in [Wilson’s disease].” […] „We know that people with cirrhosis do have an increased risk of hepatocellular carcinoma development. We also know that the risk seems low for those with Wilson’s disease,” van Meer told MedPage Today. „So the risk is not the same for every cirrhosis patient. We determined that in the case of Wilson’s disease cirrhosis, the risk of developing hepatocellular carcinoma is too low to perform surveillance.” […] „We feel that Wilson’s disease might be protective against cancer, and certainly having the disease does not warrant special surveillance for development of cancer.”

• #53 Quality of Life and Psychiatric Symptoms in Wilson’s Disease: the Relevance of Bipolar Disorders

  https://clinical-practice-and-epidemiology-in-mental-health.com/VOLUME/8/PAGE/102/FULLTEXT/

  The prevalence of WD in almost all ethnic groups is approximately 1:30,000 and the carriers are 1:90. WD is more frequent in communities isolated and characterized by a high consanguinity. In particular, in Sardinia [Italy] an incidence of 1/7.000 births has been found. […] The association between WD and Bipolar Disorders appears today more frequent than believed in the past, dues to the more specific diagnostic criteria allowing to include as Bipolar Disorders cases that early researchers defined schizophrenia-like psychosis or behavioral abnormalities. […] Prospective studies on large cohorts are required to establish the effective impact of psychiatric disorders, particularly Bipolar Disorder comorbidity on quality of life in WD patients and to clarify the causal link between brain damage, psychiatric disorders and worsening of QoL.

• #54 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The clinical prevalence of WD is low, estimated to be between 1.2/100,000 and 2.0/100,000 in European countries. […] Familial screening will have to be rethought and expanded because phenotypic expression is highly variable, even within the same family. […] The discrepancy between the high heterozygous carrier frequency and the low clinical prevalence of WD may be explained by the clinical variability, the incomplete penetrance and the existence of modifiers genes.

• #55 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The clinical prevalence of WD is low, estimated to be between 1.2/100,000 and 2.0/100,000 in European countries. […] Familial screening will have to be rethought and expanded because phenotypic expression is highly variable, even within the same family. […] The discrepancy between the high heterozygous carrier frequency and the low clinical prevalence of WD may be explained by the clinical variability, the incomplete penetrance and the existence of modifiers genes.

• #56 In the Beginning: Neonatal Screening and Management of Wilson Disease | AASLD

  https://www.aasld.org/liver-fellow-network/core-series/clinical-pearls/beginning-neonatal-screening-and-management-wilson

  Wilson’s disease (WD) is a rare genetic disorder, with an approximate incidence of 1 case per ~30,000 individuals. […] Early diagnosis and precise treatment are imperative for successful management, as untreated WD universally results in fatality. […] As per the AASLD guidelines, screening of first-degree relatives of an individual affected by Wilson disease is recommended given the variability in the age and mode of presentations. […] The widespread availability of genetic testing has led to the identification of asymptomatic infants. […] Currently there is no consensus regarding the management of infantile Wilson disease. […] Initiating surveillance in infants requires careful consideration, recognizing the challenges in obtaining blood samples. […] Assessing the liver biochemical profile of patients with genetically confirmed WD at 9-12 months, followed by serial assessment every 3-6 months, is appropriate.

• #57 Outcome of Wilson’s disease in Bangladeshi children: a tertiary center experience | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00228-6

  Wilson disease (WD) is an inherited disorder of copper metabolism commonly involving the liver, cornea, and brain. Its incidence is increasing day by day worldwide. […] According to the World Health Organization (WHO), the estimated global prevalence of WD ranges from 1/10,000 to 1/30,000. […] A recent study in Bangladesh reported 43.7% cases of WD among 71 pediatric liver disease cases. […] In Bangladesh, liver illness is a prevalent medical concern. More and more cases of WD are being diagnosed these days, as a result of diagnostic facilities. For a favorable impact, early diagnosis and treatment are essential. […] Our study observed a high mortality of cases of ALF, and also some mortality of cases of CLD and CLD with PH. […] WD is a treatable metabolic cause of liver disease. The majority of children were presented with hepatic manifestations. More than half of patients with WD treated by DP improved. Significant mortality was found in acute liver failure whereas neuropsychiatric presentations had persistent abnormalities. Early diagnosis and prompt treatment were crucial for a better outcome.

• #58 Wilson’s disease clinic at the Assiut Liver Center in Egypt: a real well-established step on the way | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00205-z

  Wilsons disease (WD) is a rare genetic disorder of copper metabolism that results in dysfunction of copper excretion into bile leading to its accumulation in the liver, brain, cornea, and kidney. […] Only a few epidemiological studies about WD have been carried out, with limited available data about the disease. […] Worldwide, very few population-based studies have examined the epidemiology of WD with an average prevalence of 1:10,00030,000 with carriers of mutation about 1:90. However, it is more common (1 in 3000 to 10,000) in communities with a high rate of consanguineous marriage as in the Middle East (Druze, Iranian Jews, Palestinian). […] Although the ability to diagnose and manage WD has improved globally, estimation of its actual prevalence remains a challenge, at least partly due to the wide range of phenotypes presenting to various medical specialties and the lack of a single diagnostic test.

• #59 :: JKMS :: Journal of Korean Medical Science

  https://jkms.org/DOIx.php?id=10.3346/jkms.2024.39.e115

  The most alarming finding of our study was that abdominal ultrasound was performed in only approximately three-quarters of the WD cases (73.2%). […] After a prompt diagnosis, lifelong treatment to reduce excess Cu levels in the body is crucial for patients with WD. […] The prevalence of WD in South Korea during the study period was 3.06/100,000 and approximately 1,800 patients used medical services annually during this period. Furthermore, the incidence of WD was 0.11/100,000, which was less than the global average.

• #60 Elastography of the Liver in Wilson’s Disease

  https://www.mdpi.com/2075-4418/13/11/1898

  Staging of liver fibrosis is important for the patient’s prognosis and surveillance. Patients with advanced fibrosis are at risk of clinical complications like ascites, variceal hemorrhage, and encephalopathy. […] The liver biopsy is used for Wilson’s disease diagnosis as well as for fibrosis staging, however, histopathological examination of the biopsy specimen enables assessment of only a small part of the liver parenchyma while lesions in the organ are distributed unevenly. […] The newly proposed magnetic resonance elastography (MRE) is based on synchronized MRI acquisition with the measurement of liver elasticity with the use of mechanical (acoustic) waves emitted by an internal device. […] The presented review aims to summarize and compare available studies on elastographic liver stiffness comparing to clinical categories and/or histopathological reports of the liver in patients with Wilson’s disease.

• #61 Elastography of the Liver in Wilson’s Disease

  https://www.mdpi.com/2075-4418/13/11/1898

  Staging of liver fibrosis is important for the patient’s prognosis and surveillance. Patients with advanced fibrosis are at risk of clinical complications like ascites, variceal hemorrhage, and encephalopathy. […] The liver biopsy is used for Wilson’s disease diagnosis as well as for fibrosis staging, however, histopathological examination of the biopsy specimen enables assessment of only a small part of the liver parenchyma while lesions in the organ are distributed unevenly. […] The newly proposed magnetic resonance elastography (MRE) is based on synchronized MRI acquisition with the measurement of liver elasticity with the use of mechanical (acoustic) waves emitted by an internal device. […] The presented review aims to summarize and compare available studies on elastographic liver stiffness comparing to clinical categories and/or histopathological reports of the liver in patients with Wilson’s disease.

• #62 Elastography of the Liver in Wilson’s Disease

  https://www.mdpi.com/2075-4418/13/11/1898

  The number of published studies on the use of elastography in Wilson’s disease is limited, mainly due to the small size of the population of people diagnosed with Wilson’s disease. Most published studies treat the pediatric and adult populations separately. […] In light of the available results, it can be concluded that a single measurement of liver stiffness is not sufficient to accurately stage fibrosis in Wilson’s disease, although it allows us to forge or confirm fibrosis. Repeated elastography in the same patient, however, allow for a more precise assessment of disease progression or regression. The combination of several methods of non-invasive assessment of fibrosis increases the chance of a more precise assessment. […] Nevertheless, a non-invasive liver stiffness measure is on the way to replace liver biopsy in Wilson’s disease.

• #63 Wilson Disease Registry > Clinical Trials > Yale Medicine

  https://www.yalemedicine.org/clinical-trials/wilson-disease-registry-1

  Patients are being recruited for a multi-center registry study for patients with Wilson Disease. […] Currently there is no established registry for Wilson disease in the US. Establishing a registry will help us to understand the epidemiology and natural history of Wilson disease. […] The registry aims to capture data on disease phenotype, genotype and patient treatment and clinical outcomes.

• #64 Wilson’s disease clinic at the Assiut Liver Center in Egypt: a real well-established step on the way | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00205-z

  Changes in the diagnostic criteria, including gene analysis and quantitative serologic study, enabled by the progression of diagnostic technology, have created a need for new epidemiological studies of WD. […] From our point of view, a nationwide registry for metabolic and genetic liver diseases, including WD, is highly required in our country.

• #65 Wilson’s disease clinic at the Assiut Liver Center in Egypt: a real well-established step on the way | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00205-z

  Changes in the diagnostic criteria, including gene analysis and quantitative serologic study, enabled by the progression of diagnostic technology, have created a need for new epidemiological studies of WD. […] From our point of view, a nationwide registry for metabolic and genetic liver diseases, including WD, is highly required in our country.

• #66 Main|Search|PHGKB

  https://phgkb.cdc.gov/PHGKB/phgHome.action?query=Wilson+Disease&action=search&Mysubmit=Search

  „Because it is a rare disease it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US. Karen M Bailey et al. Orphanet J Rare Dis 2023 18(1) 158 […] Epidemiology, treatment and burden of Wilson Disease in France: a 10-year analysis of the National Health Insurance Database. Daniel-Robin Thomas et al. Clinics and research in hepatology and gastroenterology 2022 101992 […] Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency. Lorente-Arencibia Pascual et al. Journal of pediatric gastroenterology and nutrition 2021

• #67 Wilson’s disease at a glance – Vivet Therapeutics

  https://www.vivet-therapeutics.com/pipeline/wilsons-disease-at-a-glance/

  Wilson disease (WD) is an orphan, inherited, progressive and severely debilitating disorder of copper metabolism which is lethal if left untreated. […] The disease affects approx. one in 30,000 people worldwide. Corresponding to a prevalence of approximately 10,000 patients in the US. […] All patients diagnosed with Wilsons Disease must be treated for life to prevent the development of severe neuropsychiatric and hepatic complications. […] The literature suggests that depending on the countries and centers, between 5 to 13% of WD patients are liver transplanted. Today, liver transplantation remains the only curative option for Wilson disease, but it is associated with immunosuppression for life and significant morbidity. […] Epidemiology, treatment and burden of Wilson disease in France: A 10-year analysis of the national health insurance database.

• #68 Wilson’s Disease Market – Global Market – Industry Trends and Forecast to 2028 | Data Bridge Market Research

  https://www.databridgemarketresearch.com/reports/global-wilsons-disease-market?srsltid=AfmBOoqazKE85j1tmKL6EELWtr2kF7Ebd9E9dsqCJeul3a6a135MP4G5

  The Wilsons disease market is expected to gain market growth in the forecast period of 2021 to 2028. […] Most people with Wilsons disease are diagnosed between 5 and 35 years of age but it can also affect younger and older people. […] Therefore, early diagnosis and treatment for WD is very important in order to avoid the life-threatening symptoms. […] The challenging factors for the WD are the longer delay between the first symptoms of WD to the diagnosis that is early diagnosis of the WD and is one of the challenges for the healthcare professionals in the Wilson’s disease market. […] Prevalence, incidence, mortality, adherence rates are some of the data variables that are available in the report. […] Direct or indirect impact analysis of epidemiology to Wilsons disease market growth are analysed to create a more robust and cohort multivariate statistical model for forecasting the Wilsons disease market in the growth period.

• #69 Quality of Life and Psychiatric Symptoms in Wilson’s Disease: the Relevance of Bipolar Disorders

  https://clinical-practice-and-epidemiology-in-mental-health.com/VOLUME/8/PAGE/102/FULLTEXT/

  The prevalence of WD in almost all ethnic groups is approximately 1:30,000 and the carriers are 1:90. WD is more frequent in communities isolated and characterized by a high consanguinity. In particular, in Sardinia [Italy] an incidence of 1/7.000 births has been found. […] The association between WD and Bipolar Disorders appears today more frequent than believed in the past, dues to the more specific diagnostic criteria allowing to include as Bipolar Disorders cases that early researchers defined schizophrenia-like psychosis or behavioral abnormalities. […] Prospective studies on large cohorts are required to establish the effective impact of psychiatric disorders, particularly Bipolar Disorder comorbidity on quality of life in WD patients and to clarify the causal link between brain damage, psychiatric disorders and worsening of QoL.

• #70 Monopar Therapeutics Presents Long-Term Efficacy and Safety Data for ALXN1840 in Wilson Disease at EASL International Liver Congress 2025 | Nasdaq

  https://www.nasdaq.com/articles/monopar-therapeutics-presents-long-term-efficacy-and-safety-data-alxn1840-wilson-disease

  Monopar Therapeutics presents positive long-term efficacy and safety data for ALXN1840 in treating Wilson disease at EASL 2025. […] The findings, derived from three clinical trials, demonstrate ALXN1840’s potential long-term efficacy and safety for treating this rare genetic disorder characterized by excess copper accumulation. […] The data suggests sustained improvements in patient-reported symptoms and clinician-assessed symptoms for Wilson disease, indicating potential effectiveness of ALXN1840 as a treatment. […] The poster supports the potential use of ALXN1840 as a therapeutic option for Wilson disease, a rare and progressive genetic condition in which the body’s pathway for removing excess copper is compromised, leading to damage from toxic copper build-up in tissues and organs such as the liver and brain.

• #71 Monopar Therapeutics Presents Long-Term Efficacy and Safety Data for ALXN1840 in Wilson Disease at EASL International Liver Congress 2025 | Nasdaq

  https://www.nasdaq.com/articles/monopar-therapeutics-presents-long-term-efficacy-and-safety-data-alxn1840-wilson-disease

  The data presented highlight the following: Sustained improvements from baseline in the Unified Wilson Disease Rating Scale (UWDRS) Part II (patient-reported symptoms) and Part III (clinician-assessed symptoms); Increased copper mobilization as evidenced by a sustained increase in dNCC (directly measured non-ceruloplasmin-bound copper); Improvements on the Clinical Global Impression Improvement (CGI-I) scale for ALXN1840 compared to standard of care; Improvement in the New Wilson Index (based on bilirubin, AST, INR, leukocytes, and albumin) for patients treated with ALXN1840; Higher patient-reported convenience and effectiveness of ALXN1840 compared to standard of care, including those who transitioned from standard of care to ALXN1840 in the extension portion of the Phase 3 clinical trial; and Fewer than 5% of patients experienced a drug-related serious adverse event (SAE), with no cases of a drug-related renal or urinary system SAE. […] These data show that the long-term efficacy, safety, and convenience profile of ALXN1840 are very encouraging and that ALXN1840 has the potential to provide a meaningful benefit to Wilson disease patients’ daily lives.

• #72 Monopar Therapeutics Presents Long-Term Efficacy and Safety Data for ALXN1840 in Wilson Disease at EASL International Liver Congress 2025 | Nasdaq

  https://www.nasdaq.com/articles/monopar-therapeutics-presents-long-term-efficacy-and-safety-data-alxn1840-wilson-disease

  The data presented highlight the following: Sustained improvements from baseline in the Unified Wilson Disease Rating Scale (UWDRS) Part II (patient-reported symptoms) and Part III (clinician-assessed symptoms); Increased copper mobilization as evidenced by a sustained increase in dNCC (directly measured non-ceruloplasmin-bound copper); Improvements on the Clinical Global Impression Improvement (CGI-I) scale for ALXN1840 compared to standard of care; Improvement in the New Wilson Index (based on bilirubin, AST, INR, leukocytes, and albumin) for patients treated with ALXN1840; Higher patient-reported convenience and effectiveness of ALXN1840 compared to standard of care, including those who transitioned from standard of care to ALXN1840 in the extension portion of the Phase 3 clinical trial; and Fewer than 5% of patients experienced a drug-related serious adverse event (SAE), with no cases of a drug-related renal or urinary system SAE. […] These data show that the long-term efficacy, safety, and convenience profile of ALXN1840 are very encouraging and that ALXN1840 has the potential to provide a meaningful benefit to Wilson disease patients’ daily lives.

Zobacz więcej