Introduction

The comorbidity of autoimmune hepatitis (AIH) and Wilson’s disease (WD) can be considered, but has never been proven based on therapeutic response. There is a risk of misdiagnosis with standard diagnostic approaches. We describe a case of a challenging patients where final diagnosis could not be established with primary diagnostic approaches, and we question the coexistence of AIH and WD.

Material and methods

We identified four cases among 165 patients with WD and 321 with AIH treated in our hospital, whose primary diagnosis was changed or questioned, analysis of which shows the difficulty in differentiating between these two diseases.

Results

We presented four patients – three of them were diagnosed because of elevated serum aminotransferases activity and one due to acute hepatic failure. The three children were initially diagnosed as AIH, but after meticulous screening, WD was diagnosed. In the fourth case, WD was diagnosed from the beginning, but some autoimmune features and an incomplete response to the treatment prompted us to use steroids to achieve full recovery.

Conclusions

WD can usually be distinguished from AIH, but in selected cases differential diagnosis is challenging. It seems to be extremely important to carry out a complete diagnostic set for WD in patients with initial diagnosis of AIH with poor response to steroids. In a large cohort of patients with WD and with AIH, only one seemed to have comorbidity, but even in this case AIH was not fully confirmed.