Late onset Wilson's disease: therapeutic implications
Anna Członkowska1, Maria Rodo, Grazyna Gromadzka
1Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Summary
This case study highlights an 84-year-old woman with Wilson's disease (WD) who remained asymptomatic until age 74. It questions the age-related penetrance of WD and the necessity of early anticopper therapy for presymptomatic patients.
Area of Science:
- * Genetics and rare diseases
- * Clinical neurology
- * Hepatology
Background:
- * Wilson's disease (WD) is a rare genetic disorder characterized by copper accumulation.
- * Typical onset of clinical symptoms ranges from 3 to 40 years, affecting the liver, brain, and psychiatric functions.
- * The ATP7B gene mutation is the primary cause of WD.
Observation:
- * An 84-year-old female patient with WD presented with Kayser-Fleischer rings as the sole symptom until age 74.
- * She developed mild liver function abnormalities at age 74, despite no prior WD treatment.
- * This presentation deviates from the typical age of symptom onset and progression in WD.
Findings:
- * The patient's late-onset, mild presentation challenges the established clinical profile of Wilson's disease.
- * Kayser-Fleischer rings can be present in asymptomatic or late-diagnosed WD patients.
- * Liver function abnormalities can manifest late in the disease course without prior treatment.
Implications:
- * The case prompts re-evaluation of diagnostic criteria for Wilson's disease across all age groups.
- * It raises questions about the full penetrance of ATP7B mutations and variable expressivity.
- * The findings suggest a need to reconsider universal anticopper therapy protocols for presymptomatic WD diagnoses.
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