Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder of copper metabolism affecting multiple systems.
Wilson disease is commonly found in Japan. It affects 1 in 30,000-40,000 individuals 12.
Clinical presentation is non-specific and varied 5,11,13:
- weakening of hands and dysarthria are often the earliest symptoms 5
- pseudo-parkinsonian and cerebellar symptoms
- psychiatric symptoms
- liver disease (more so in children and young adults)
Kayser-Fleischer rings are seen in the cornea and are a characteristic feature 11.
It is a disorder that results from abnormal caeruloplasmin metabolism; a result of a variety of mutations in the ATP7B gene. Total body copper is elevated with deposition and resultant damage to a variety of organs, e.g. liver and brain.
Three pathways affected mostly:
- dentatorubrothalamic tract
- pontocerebellar tract
- corticospinal tract
- serum ceruloplasmin: reduced 13,14
- serum copper: reduced 14
- free serum copper: increased 14
- urinary copper: increased 14
Please see individual articles:
- Wilson disease: hepatobiliary manifestations
- Wilson disease: CNS manifestations
- Wilson disease: musculoskeletal manifestations
Treatment and prognosis
Treatment options include chelation therapy 7.
History and etymology
It was initially described by Kinnier Wilson in 1912 10 as "progressive lenticular degeneration".
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- 3. Kim TJ, Kim IO, Kim WS et-al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol. 27 (6): 1373-8. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 4. Kvícala V, Vymazal J, Nevsimalová S. Computed tomography of Wilson disease. AJNR Am J Neuroradiol. 4 (3): 429-30. AJNR Am J Neuroradiol (abstract) - Pubmed citation
- 5. King AD, Walshe JM, Kendall BE et-al. Cranial MR imaging in Wilson's disease. AJR Am J Roentgenol. 1996;167 (6): 1579-84. AJR Am J Roentgenol (abstract) - Pubmed citation
- 6. Tani I, Kurihara Y, Kawaguchi A et-al. MR imaging of diffuse liver disease. AJR Am J Roentgenol. 2000;174 (4): 965-71. AJR Am J Roentgenol (full text) - Pubmed citation
- 7. Walshe JM, Yealland M. Chelation treatment of neurological Wilson's disease. Q. J. Med. 1993;86 (3): 197-204. Q. J. Med. (abstract) - Pubmed citation
- 8. De maria M, De simone G, Laconi A et-al. Gold storage in the liver: appearance on CT scans. Radiology. 1986;159 (2): 355-6. Radiology (abstract) - Pubmed citation
- 9. Runge VM, Clanton JA, Smith FW et-al. Nuclear magnetic resonance of iron and copper disease states. AJR Am J Roentgenol. 1983;141 (5): 943-8. AJR Am J Roentgenol (abstract) - Pubmed citation
- 10. Wilson S.A.K. Progressive lenticular degenerations: A familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 295-507.
- 11. Hegde AN, Mohan S, Lath N et-al. Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus. Radiographics. 31 (1): 5-30. doi:10.1148/rg.311105041 - Pubmed citation
- 12. Patil M, Sheth KA, Krishnamurthy AC et-al. A review and current perspective on Wilson disease. J Clin Exp Hepatol. 2013;3 (4): 321-36. doi:10.1016/j.jceh.2013.06.002 - Free text at pubmed - Pubmed citation
- 13. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47 (6): 2089-111. doi:10.1002/hep.22261 - Pubmed citation
- 14. Kumar N, Butz JA, Burritt MF. Clinical significance of the laboratory determination of low serum copper in adults. Clin. Chem. Lab. Med. 2007;45 (10): 1402-10. doi:10.1515/CCLM.2007.292 - Pubmed citation