The lipodystrophies are an extremely rare group of metabolic conditions which are categorised based on their pathogenesis and phenotype. While primarily known for the striking loss of subcutaneous adipose tissue which they induce, they may also be associated with significant liver injury. In most cases, this results from the secondary deposition of lipid within hepatic parenchyma and is seen predominantly in generalised lipodystrophy. More rarely, patients may develop autoimmune hepatitis. We report a rare case of a 17-month-old boy who developed features of acquired partial lipodystrophy in association with anti-LKM1-positive autoimmune hepatitis following initial presentation with a Henoch-Schönlein purpura-like illness. We describe his challenging path to diagnosis and discuss his ongoing management in an effort to further our understanding of this rare but significant association. This report highlights the need for close clinical observation and a high index of suspicion for recognising early features of lipodystrophy.
- autoimmune liver disease
- lipid metabolism
- paediatric liver disease
- liver antibodies
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Contributors This case was originally identified by GA who conceived of the idea to publish a case report. GA, AR, GG and RW have all made significant contributions to the clinical management of the case and RB provided and interpreted the liver histology. All authors contributed to the drafting and finalising of the report which was written by CB and KD and it was submitted by CB. GG and GA are the senior authors with overall responsibility for the report.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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