Abstract
Wilson disease (WD) is a disorder of copper transport that can cause hepatic and neuropsychiatric symptoms. Because of its broad spectrum of clinical manifestations that can present in almost any decade of life, a high degree of clinical suspicion is needed for diagnosis. We present an exceptional family with three consecutive generations affected by WD. Autosomal recessive disorders are not typically present in consecutive generations, but this can occur, particularly when carrier frequencies are as high as in WD. This point is of critical importance in counseling families affected by WD. This case also highlights the importance of genetic testing in confirming the diagnosis of WD, particularly when there is a positive family history. To our knowledge, this is the first report of WD in three consecutive generations.
Competing interests: None declared
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Abbreviations
- WD:
-
Wilson disease
References
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Communicated by: John Christodoulou
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Grant Support
JB receives funding from NIH T32 training grant. KS receives funding from National Institute of Diabetes, Digestive and Kidney Diseases, Bristol Myers Squibb, Novartis, and Vertex Pharmaceuticals. PS and SH have no sources of funding to report.
Author Contributions
JB, KS, PS, and SH saw patients and contributed clinical information. JB and SH wrote the manuscript.
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There are no conflicts of interest.
Take-Home Message
Providers must counsel their patients with Wilson disease carefully about recurrence risks since there can be vertical transmission of WD due to the fact that the carrier frequency is fairly high.
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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg
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Bennett, J.T., Schwarz, K.B., Swanson, P.D., Hahn, S.H. (2012). An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 10. JIMD Reports, vol 10. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_206
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DOI: https://doi.org/10.1007/8904_2012_206
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