The Prevalence of Wilson’s Disease: An Update

Abstract

Background and Aims In 1984, Scheinberg and Sternlieb estimated the prevalence of Wilson’s 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. Approach and Results A MEDLINE Ovid, Science Citation Index Expanded, and PubMed systematic search for all relevant studies on the prevalence of Wilson’s disease was conducted. In total, 59 studies (50 clinical and 9 population‐based genetic) were included in the final analysis. We identified 4 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 because of 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‐Fleischer rings or ceruloplasmin, did not improve these estimates because of 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. Conclusions The original prevalence estimate from 1984 of 1:30,000‐1:50,000 still appears valid, at least for the United States, 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.

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

“…8 Therefore, we hypothesize that the p. Asn1270Ser variant may have a highly deleterious effect, however, mutation status has not been demonstrated to relate to more severe phenotypes. 28,29 As genetic services in Costa Rica continue to grow, genetic knowledge continues to expand, and clinical applications increase, strategies to deliver services can be optimized for our population. Delivery of clinical services in the future may include widespread molecular screening in regions with high prevalence and copy number variant detection to improve sensitivity.…”

Wilson's Disease in Finland: A Nationwide Population‐Based Study

“…Ryan M. Jones, PhD, 1 * Yuexi Huang, PhD, 1 Ying Meng, MD, 2,3 Nadia Scantlebury, PhD, 2 Michael L. Schwartz, MD, MSc, 2,3 Nir Lipsman, MD, PhD, 2,3 and Kullervo Hynynen, PhD Transcranial magnetic resonance-guided focused ultrasound (TcMRgFUS) thermoablation has been approved by the US Food and Drug Administration for essential tremor (ET) 1,2 and tremor-dominant Parkinson's disease 3 and is under clinical testing for neuropathic pain 4 and psychiatric disorders 5,6 among other indications. 7 Despite the considerable progress made to date to enable transcranial treatments, 8 the skull remains a major limiting factor because high focal temperatures are difficult to achieve in patients with unfavorable skull characteristics (eg, low skull density ratio [SDR = mean ratio of trabecular to cortical bone computed tomography (CT) Hounsfield intensity], large skull thickness). [9][10][11] Benchtop studies have revealed considerable variability in human skull transmission efficiency, [12][13][14] and a wide range of acoustic energy levels are required during clinical procedures.…”

Retrospektive Querschnittsstudie von bundesweiten Arzneiverordnungsdaten und vertragsärztlichen Abrechnungsdaten von Morbus Wilson

“…Scheinberg und Sternlieb schätzten die Prävalenz des Morbus Wilsons 1984 auf 1:30 000 [9]. Auch in aktueller Literatur wird bezüglich der klinisch manifesten Prävalenz auf Werte zwischen 1:30 000 und 1:100 000 verwiesen [3,5,[9][10][11][12], wohingegen genetische Kollektivstudien auch höhere Häufigkeiten plausibel erscheinen lassen [13]. Eine Auswertung zur Prävalenz von etwa 80 seltenen Erkrankungen aus Routinedaten der vertragsärztlichen Versorgung ergab für die Jahre 2008 bis 2011 eine mittlere Prävalenz des Morbus Wilson in der ambulanten Versorgung in Deutschland von 3,28 pro 100 000 gesetzlich Versicherter mit einer gepoolten jährlichen Patientenzahl von 2282 [14].…”