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Most references state that Wilson disease rarely presents after age 30 or 40. This multinational case series, mainly from Europe, suggests that a presentation later in life may be somewhat more common than previously thought.
Of 1053 patients with Wilson disease, 46 patients (4%) experienced symptom onset at age 40 or older (age range, 40–58). Fifteen late-onset patients presented with liver disease: 14 had abnormal liver function tests or hepatomegaly (with biopsy-proven cirrhosis in most cases), and 1 had fulminant hepatitis. The other 31 patients presented with neurologic symptoms. Kayser-Fleischer rings were found in 70% of late-onset patients, and serum ceruloplasmin levels were low in 89%. Mutations of the ATP7B gene (primarily the H10…