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Published on: September 30, 2021
Wilson disease: clinical presentation, treatment, and survival
W Stremmel1, K W Meyerrose, C Niederau
1Heinrich-Heine University Hospital, Düsseldorf, Federal Republic of Germany.
Annals of Internal Medicine
|November 1, 1991
Summary
Long-term D-penicillamine treatment for Wilson disease effectively manages symptoms and improves patient prognosis. This study highlights its role in relieving hematologic and neurologic issues, enhancing survival rates for this genetic disorder.
Area of Science:
- Hepatology and Gastroenterology
- Neurology
- Genetics and Rare Diseases
Background:
- Wilson disease is a rare genetic disorder characterized by excessive copper accumulation in organs.
- Early diagnosis and consistent management are crucial for preventing severe liver and neurological damage.
- Understanding the long-term outcomes of treatment is essential for patient care and prognosis.
Purpose of the Study:
- To assess the diagnostic characteristics of Wilson disease.
- To evaluate the clinical progression and long-term survival rates in patients with Wilson disease.
- To determine the efficacy of D-penicillamine in managing Wilson disease.
Main Methods:
- A retrospective cohort study involving 51 patients diagnosed with Wilson disease between 1957 and 1989.
- Patients received D-penicillamine (600-1800 mg/d); two with end-stage liver disease underwent liver transplantation.
- A mean follow-up period of 14.2 years was maintained to track patient outcomes.
Main Results:
- The mean age of symptom onset was 15.5 years, with common initial symptoms including dysarthria, tremor, and ataxia.
- D-penicillamine treatment improved hematologic and neurologic symptoms but had limited effects on hepatomegaly, splenomegaly, and cirrhosis.
- Free serum copper concentration proved a reliable indicator for disease status and treatment effectiveness.
Conclusions:
- Long-term D-penicillamine therapy can significantly alleviate Wilson disease symptoms and improve patient outcomes.
- While D-penicillamine is effective, liver transplantation remains a critical option for patients with end-stage liver disease.
- Consistent monitoring of free serum copper levels is vital for assessing treatment efficacy in Wilson disease management.
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