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Wilson Disease: Not Just in Young People

WD should be considered in any patient with liver or neurologic symptoms of unknown etiology.

Wilson disease (WD) is a rare autosomal recessive inherited disorder of hepatic copper metabolism. Symptoms are quite varied, with liver disease and neuropsychiatric disturbances being the most common. Diagnosis can be difficult, because no single test is pathognomonic for WD. WD is most commonly seen in children and young adults and rarely manifests in people older than 40. In a multinational cohort study that started in 1995, researchers evaluated the prevalence of late-onset WD and its diagnostic features.

A total of 1223 patients with WD (1053 index cases; 170 siblings) were enrolled. Participants underwent laboratory testing and filled out detailed background questionnaires. WD was confirmed based on an international scoring system, and age of onset was defined as the time when the first clinical symptoms attributable to WD occurred. Liver biopsies were not performed in all patients.

Symptomatic WD manifested in 46 patients (3.8% of the cohort) after age 40; 2 asymptomatic siblings who were older than 40 were identified by genetic testing. Fifteen patients with late-onset WD presented with liver disease (1 with fulminant liver failure), and 31 presented with neurologic symptoms. Mean delays from symptom onset to diagnosis were 1.3 years (range, 0–6 years) for patients with liver presentations and 2.8 years (range, 0–15 years) for patients with neurologic presentations. Diagnostic features and genetic backgrounds in patients with late-onset WD were not different from those of the whole cohort.

Comment: In this large cohort, a substantial minority of WD patients developed symptomatic disease after age 40, which refutes the prevailing dogma that WD is a disease of only children and young adults. Clinicians should be aware of late-onset WD, because a delay in diagnosis (as long as 15 years, in this study) can be associated with substantial morbidity and mortality.

— Atif Zaman, MD, MPH

Published in Journal Watch Gastroenterology June 22, 2007

Citation(s):

Ferenci P et al. Late-onset Wilson’s disease. Gastroenterology 2007 Apr; 132:1294-8.

• Medline abstract (Free)