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Factors modifying the prognosis of Wilson's disease in childhood
Insights
Early diagnosis and lifelong, uninterrupted treatment are crucial for improving Wilson's disease prognosis. Interrupting D-penicillamine treatment, especially with neurological symptoms, significantly worsens outcomes and survival rates.
Area of Science:
- Hepatology
- Neurology
- Clinical Medicine
Background:
- Wilson's disease is a genetic disorder affecting copper metabolism.
- Early diagnosis and treatment are vital for managing Wilson's disease.
- D-penicillamine is a primary treatment, but adherence and side effects impact outcomes.
Purpose of the Study:
- To investigate the long-term prognosis of Wilson's disease in patients diagnosed before age 15.
- To evaluate the impact of D-penicillamine treatment adherence and side effects on patient outcomes.
- To identify factors influencing mortality and morbidity in Wilson's disease.
Main Methods:
- Retrospective analysis of 96 Wilson's disease patients diagnosed between 1965-1983.
- Assessment of daily living activities, treatment interruptions, and toxic side effects.
- Correlation of initial symptoms (neurological vs. hepatic) with prognosis and mortality.
Main Results:
- Poor prognosis observed in patients with initial neurological symptoms.
- One-third of patients interrupted D-penicillamine treatment, worsening prognosis.
- Half of patients experienced toxic side effects; 17% discontinued treatment despite mild/no side effects.
- Eight deaths occurred, seven in patients with initial hepatic symptoms.
Conclusions:
- Early diagnosis and treatment before neurological or hepatic failure are critical.
- Lifelong, uninterrupted D-penicillamine therapy is essential for optimal Wilson's disease prognosis.
- Managing treatment side effects and ensuring patient adherence are key to improving long-term outcomes.
Abstract:
The prognosis of Wilson's disease was investigated in 96 patients, in whom the disease had presented before 15 years of age and had begun between 1965 and 1983 (when D-penicillamine was widely available in Japan). In the activities of daily living, the prognosis was poor in those patients presenting with neurological symptoms. Interruption of D-penicillamine treatment was seen in one third of the patients, and it worsened the prognosis. Toxic side effects were seen in about half of the patients, being more frequent in the patients with initial neurological symptoms. A disappointing 17% of patients with slight or no side effects discontinued the drug. Death occurred in eight patients of whom seven had had initial hepatic symptoms. Not only early diagnosis and treatment before the appearance of hepatic failure or neurological symptoms, but also treatment throughout life without interruption is important for improving the prognosis of Wilson's disease.