Late-onset lipid storage myopathy with fatal hepatosteatosis

Abstract

Hepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often affects the muscles, heart and liver. Coenzyme Q, riboflavin or carnitine replacement can be beneficial in some cases. We describe a patient who presented with liver failure and was unresponsive to treatment. LEARNING POINTS • Hepatosteatosis can be associated with genetic disease and not just diet. • Lipid storage disease should be considered in patients presenting with liver disease with hypoglycaemia, muscle weakness and a family history. • Lipid storage disease is a rare heterogeneous genetic condition that has no specific treatment and requires further research. European Journal of Case Reports in Internal Medicine - © EFIM 2020