LAUSR

Background The lipodystrophies are an extremely rare group of metabolic conditions. In acquired partial lipodystrophy (APL), the predominant clinical feature is a progressive, symmetrical reduction of adipose tissue which typically begins during the pre-adolescent period. While the pathogenesis of APL is likely to be complex and heterogeneous, a subset of these patients are reported to develop associated autoimmune conditions, including hepatitis. This has led some to implicate an underlying autoimmune process. Method We report an ultra-rare case of a 17-month-old boy who presented to hospital with a Henoch-Schonlein Purpura-like illness and subsequently developed anti-LKM-1 positive autoimmune hepatitis (AIH) as well as clinical features of Acquired Partial Lipodystrophy. Results In this child, the features of lipodystrophy occurred at a very early age and in association with a relatively mild hepatitis. We document his challenging path from first presentation, through to the diagnosis of AIH and APL and discuss his ongoing management. Despite an encouraging reduction in liver transaminases following dual immunosuppression, no improvement was observed in his adipose tissue distribution. Conclusions Cases of autoimmune hepatitis occurring in association with acquired partial lipodystrophy are extremely rare. The primary aim of this report is therefore to familiarise the PGHAN community with this uncommon association. While much is still unknown about the link between these conditions, we use this case to discuss the current evidence for their shared pathogenesis.