Background: Poor glycaemic control in people with diabetes mellitus (DM) results in many complications. One rare complication is glycogenic hepatopathy.
Case: A 20-year-old male with Type 1 DM since age seven was admitted with diabetic ketoacidosis in the context of recurrent similar presentations secondary to poor insulin therapy adherence. His liver function tests (LFTs) were abnormal with peak levels of ALT 1857U/L (10-50U/L), AST 8793U/L (10-35U/L), GGT 562U/L (≤50U/L), and ALP 332U/L (45-150U/L). Serum lactate was high at 7.8mmol/L (≤2.0) and remained elevated despite clinical improvement. HbA1c was 9.1%.
Review of previous biochemistry revealed transient periods of LFT derangement with associated hyperlactatemia. Ultrasound demonstrated an enlarged liver of 26.8cm span with increased echotexture but no focal abnormalities.
Autoimmune and viral hepatitis screens were negative. Liver biopsy was consistent with glycogenic hepatopathy, demonstrating increased glycogen content within the hepatocytes, without any evidence of steatosis, fibrosis, or ballooning degeneration.
Discussion: Glycogenic hepatopathy, a feature of Mauriac Syndrome, is difficult to distinguish from metabolic associated fatty liver disease (MAFLD) on biochemistry and ultrasound. However, on CT scan, MAFLD appears hypodense and glycogenic hepatopathy hyperdense. Diagnosis requires liver biopsy. Glycogenic hepatopathy is often accompanied by hyperlactataemia, for which the mechanism is poorly understood. Improved glycaemic control is essential for management of both glycogenic hepatopathy and MAFLD. Glycogenic hepatopathy is benign and reversible, with resolution of biochemical and ultrasound abnormalities in days to weeks once glycaemic control improves. In comparison, MAFLD can progress to fibrosis and advanced cirrhosis, and is related to a higher prevalence of microvascular and macrovascular complications.(1)
Conclusion: Increased awareness of glycogenic hepatopathy as a rare cause of hepatomegaly and elevated transaminases in patients with poorly controlled diabetes is needed. It needs to be differentiated from MAFLD as, although initial management is similar, it is rapidly reversible and has an excellent prognosis.