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Arthropathic presentation of Wilson's disease
A K Misra1, A Biswas, G Ganguly
1Department of Neuromedicine, Bangur Institute of Neurology and I.P.G.M.E&R, Kolkata, India.
The Journal of the Association of Physicians of India
|January 8, 2005
Summary
Wilson's disease (WD) can manifest with joint pain and tremors in young individuals. Early diagnosis is crucial for managing this genetic disorder affecting the liver and brain.
Area of Science:
- Neurology
- Genetics
- Rheumatology
Background:
- Wilson's disease (WD) is a rare inherited disorder of copper metabolism.
- It typically presents with hepatic, neurologic, or psychiatric symptoms.
- Musculoskeletal manifestations are less commonly recognized as initial symptoms.
Observation:
- A young patient presented with polyarthritis affecting small and large limb joints.
- Later, tremors developed, impacting all four extremities.
- The patient's clinical presentation prompted further investigation.
Findings:
- Diagnostic investigations, including genetic studies, confirmed Wilson's disease (WD).
- The genetic analysis identified specific mutations associated with WD.
- Biochemical tests indicated abnormal copper accumulation.
Implications:
- This case underscores the importance of considering WD in young patients with unexplained polyarthritis.
- Neurological symptoms like tremors can be a presenting feature of WD.
- Timely diagnosis of WD is essential for effective treatment and preventing irreversible organ damage.
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