Thomas Damgaard Sandahl

The Prevalence of Wilson’s Disease: An Update

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The Prevalence of Wilson’s Disease : An Update. / Sandahl, Thomas Damgaard; Laursen, Tea Lund; Munk, Ditte Emilie; Vilstrup, Hendrik; Weiss, Karl Heinz; Ott, Peter.

In: Hepatology, Vol. 71, No. 2, 02.2020, p. 722-732.

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Sandahl, Thomas Damgaard ; Laursen, Tea Lund ; Munk, Ditte Emilie ; Vilstrup, Hendrik ; Weiss, Karl Heinz ; Ott, Peter. / The Prevalence of Wilson’s Disease : An Update. In: Hepatology. 2020 ; Vol. 71, No. 2. pp. 722-732.

Bibtex

@article{ff0687ecb8874d32a859fa7632332959,
title = "The Prevalence of Wilson{\textquoteright}s Disease: An Update",
abstract = "BACKGROUND AND AIMS: In 1984, Scheinberg and Sternlieb estimated the prevalence of Wilson disease to be 1:30,000 based on the limited available data. This suggested a large number of overlooked cases with potentially fatal consequences. The {"}Scheinberg-Sternlieb Estimate{"} is still widely used although more recent clinical and genetic studies of higher quality are now available. In the present study, we included these data to update the prevalence estimate.METHODS: A MEDLINE Ovid, Science Citation Index Expanded, and PubMed systematic search for all relevant studies on Wilson disease prevalence was conducted.RESULTS: In total, 59 studies (50 clinical and 9 population-based genetic) were included in the final analysis. We identified four recent clinical studies based on nationwide databases of high quality, providing prevalence estimates from 1:29,000 to 1:40,000. Higher frequency populations do exist due to frequent first cousin marriages and/or a higher mutation frequency. When calculating prevalence from the incidence related to number of births, estimates were 1:40,000-1:50,000. Clinical screening studies including examination for Kayser-Fleisher Rings or ceruloplasmin did not improve these estimates due to insufficient sample size or selection biases. Population-based genetic studies in US and UK populations were not in disagreement with the clinically-based estimates. At the same time studies from France and Sardinia suggested that the genetic prevalence may be 3-4 times higher than the clinical disease prevalence. This raises the question whether the penetrance is indeed 100% as generally assumed.CONCLUSION: The original prevalence estimate from 1984 of 1:30,000-1:50,000 still appears valid at least for USA, Europe and Asia. In some population-based studies, the genetic prevalence was 3-4 times higher than clinically based estimates. The question of penetrance needs further evaluation. This article is protected by copyright. All rights reserved.",
keywords = "ATP7B GENE, BLOOD SPOTS, CARRIER FREQUENCY, CERULOPLASMIN, CLINICAL PRESENTATION, DIAGNOSIS, IDENTIFICATION, KOREAN POPULATION, MUTATIONS, NATURAL-HISTORY",
author = "Sandahl, {Thomas Damgaard} and Laursen, {Tea Lund} and Munk, {Ditte Emilie} and Hendrik Vilstrup and Weiss, {Karl Heinz} and Peter Ott",
note = "{\textcopyright} 2019 by the American Association for the Study of Liver Diseases.",
year = "2020",
month = feb,
doi = "10.1002/hep.30911",
language = "English",
volume = "71",
pages = "722--732",
journal = "Hepatology",
issn = "0270-9139",
publisher = "JohnWiley & Sons, Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - The Prevalence of Wilson’s Disease

T2 - An Update

AU - Sandahl, Thomas Damgaard

AU - Laursen, Tea Lund

AU - Munk, Ditte Emilie

AU - Vilstrup, Hendrik

AU - Weiss, Karl Heinz

AU - Ott, Peter

N1 - © 2019 by the American Association for the Study of Liver Diseases.

PY - 2020/2

Y1 - 2020/2

N2 - BACKGROUND AND AIMS: In 1984, Scheinberg and Sternlieb estimated the prevalence of Wilson disease to be 1:30,000 based on the limited available data. This suggested a large number of overlooked cases with potentially fatal consequences. The "Scheinberg-Sternlieb Estimate" is still widely used although more recent clinical and genetic studies of higher quality are now available. In the present study, we included these data to update the prevalence estimate.METHODS: A MEDLINE Ovid, Science Citation Index Expanded, and PubMed systematic search for all relevant studies on Wilson disease prevalence was conducted.RESULTS: In total, 59 studies (50 clinical and 9 population-based genetic) were included in the final analysis. We identified four recent clinical studies based on nationwide databases of high quality, providing prevalence estimates from 1:29,000 to 1:40,000. Higher frequency populations do exist due to frequent first cousin marriages and/or a higher mutation frequency. When calculating prevalence from the incidence related to number of births, estimates were 1:40,000-1:50,000. Clinical screening studies including examination for Kayser-Fleisher Rings or ceruloplasmin did not improve these estimates due to insufficient sample size or selection biases. Population-based genetic studies in US and UK populations were not in disagreement with the clinically-based estimates. At the same time studies from France and Sardinia suggested that the genetic prevalence may be 3-4 times higher than the clinical disease prevalence. This raises the question whether the penetrance is indeed 100% as generally assumed.CONCLUSION: The original prevalence estimate from 1984 of 1:30,000-1:50,000 still appears valid at least for USA, Europe and Asia. In some population-based studies, the genetic prevalence was 3-4 times higher than clinically based estimates. The question of penetrance needs further evaluation. This article is protected by copyright. All rights reserved.

AB - BACKGROUND AND AIMS: In 1984, Scheinberg and Sternlieb estimated the prevalence of Wilson disease to be 1:30,000 based on the limited available data. This suggested a large number of overlooked cases with potentially fatal consequences. The "Scheinberg-Sternlieb Estimate" is still widely used although more recent clinical and genetic studies of higher quality are now available. In the present study, we included these data to update the prevalence estimate.METHODS: A MEDLINE Ovid, Science Citation Index Expanded, and PubMed systematic search for all relevant studies on Wilson disease prevalence was conducted.RESULTS: In total, 59 studies (50 clinical and 9 population-based genetic) were included in the final analysis. We identified four recent clinical studies based on nationwide databases of high quality, providing prevalence estimates from 1:29,000 to 1:40,000. Higher frequency populations do exist due to frequent first cousin marriages and/or a higher mutation frequency. When calculating prevalence from the incidence related to number of births, estimates were 1:40,000-1:50,000. Clinical screening studies including examination for Kayser-Fleisher Rings or ceruloplasmin did not improve these estimates due to insufficient sample size or selection biases. Population-based genetic studies in US and UK populations were not in disagreement with the clinically-based estimates. At the same time studies from France and Sardinia suggested that the genetic prevalence may be 3-4 times higher than the clinical disease prevalence. This raises the question whether the penetrance is indeed 100% as generally assumed.CONCLUSION: The original prevalence estimate from 1984 of 1:30,000-1:50,000 still appears valid at least for USA, Europe and Asia. In some population-based studies, the genetic prevalence was 3-4 times higher than clinically based estimates. The question of penetrance needs further evaluation. This article is protected by copyright. All rights reserved.

KW - ATP7B GENE

KW - BLOOD SPOTS

KW - CARRIER FREQUENCY

KW - CERULOPLASMIN

KW - CLINICAL PRESENTATION

KW - DIAGNOSIS

KW - IDENTIFICATION

KW - KOREAN POPULATION

KW - MUTATIONS

KW - NATURAL-HISTORY

U2 - 10.1002/hep.30911

DO - 10.1002/hep.30911

M3 - Journal article

C2 - 31449670

VL - 71

SP - 722

EP - 732

JO - Hepatology

JF - Hepatology

SN - 0270-9139

IS - 2

ER -