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Clinical manifestations and survival pattern of Wilson's disease
V S Richard1, V K Harris, V Shankar
1Christian Medical College, Vellore 632004, Tamil Nadu, India.
Insights
Wilson's disease can affect adults, not just children. Hepatic presentation significantly increases mortality risk by five-fold compared to neurological symptoms in Wilson's disease patients.
Area of Science:
- Hepatology
- Neurology
- Genetics
Background:
- Wilson's disease is a rare genetic disorder affecting copper metabolism.
- Early diagnosis and treatment are vital to prevent severe, potentially fatal complications.
- While often diagnosed in childhood, adult-onset is possible.
Purpose of the Study:
- To analyze the clinical manifestations of Wilson's disease.
- To investigate the survival patterns in patients with Wilson's disease.
- To identify factors influencing mortality risk.
Main Methods:
- Retrospective review of hospital records for clinical data.
- Prospective follow-up to determine survival status.
- Kaplan-Meier survival analysis and Cox proportional hazards modeling.
Main Results:
- Sixty patients were studied, with symptom onset ranging from 5 to 52 years.
- Patients presenting with hepatic symptoms had significantly shorter survival (87.36 months) than those with neurological symptoms (114.33 months).
- Hepatic presentation was associated with a 4.9-fold increased hazard ratio for mortality.
Conclusions:
- Wilson's disease presentation is not confined to pediatric patients.
- Hepatic presentation confers a substantially higher mortality risk compared to neurological presentation in Wilson's disease.
Background:
Wilson's disease usually presents in childhood. Early recognition and treatment is crucial to retard the progression of this disease, which can be debilitating, if not fatal. We analysed the clinical manifestations and survival pattern of patients admitted at our centre from 1993 to 1996.
Methods:
Hospital records of patients were reviewed to obtain the clinical manifestations. The survival status of patients was determined by a prospective follow up. The Kaplan-Meier survival curve and univariate Cox proportional hazards model were used to determine the survival pattern and risk for death in Wilson's disease.
Results:
A total of 60 patients were studied. The median age at onset of symptoms was 12 years (range 5-52 years). The log rank test showed a significant difference in the mean (SD) survival between patients who presented with hepatic [87.36 (15.26) months] and neurological symptoms [114.33 (9.14) months]. Cox proportional hazards analysis showed a hazard ratio of 4.9 for patients with a hepatic presentation compared to those with neurological presentation.
Conclusion:
The presentation of Wilson's disease is not limited to the paediatric age group. Patients with a hepatic presentation had a five-fold higher risk of mortality when compared to those with a neurological presentation.