Endocrine Abstracts

Glycogenic hepatopathy (GH) is a rare complication of poorly controlled type 1 diabetes characteristically seen in children and young adults. The aetiology is incompletely understood but recurrent extreme fluctuations in glucose levels with hyperglycaemia being over-treated with insulin resulting in hypoglycaemia appears to be pivotal. Transient elevation of transaminases along with hepatomegaly are found coincidental with episodes of abdominal pain, nausea and vomiting. We present 3 cases of GH with similar clinical and investigation features in which the hepatomegaly was attributed to metabolic dysfunction-associated steatotic liver disease (MASLD).

Case 1: female, age 22, HbA1c 148 mmol/mol, labile blood glucose levels, weight 38 kg, BMI 20.4, alanine transaminase (ALT) 466 IU/l, MRI no evidence of fatty infiltration, liver biopsy – histology consistent with GH. Case 2 male, age 23, HbA1c 129 mmol/mol, labile blood glucose levels, weight 60.3 kg, BMI 20.8, ALT 264 IU/l, MRI no evidence of fatty infiltration, liver biopsy – histology consistent with GH. Case 3 female, age 21, HbA1c 133 mmol/mol, labile blood glucose level, weight 39.3 kg, BMI 15.2, ALT 164 IU/l, MRI no evidence of fatty infiltration, liver biopsy declined.

Discussion: Following the entry of high glucose levels into hepatocytes, facilitated by the non-insulin dependent glucose transporter (GLUT2), it is phospholorated to glucose-6-phosphate by the enzyme glucokinase which is then converted to glycogen by glycogen synthetase, the latter activated by high insulin levels. This process results in increased glycogen storage in hepatocytes resulting in them swelling and consequent hepatomegaly. The similar features in our 3 patients, particularly the low BMIs, contrast with those of MASLD which include type 2 diabetes and obesity. Avoidance of extreme variations of glucose improved HbA1c with resolution of symptoms and hepatomegaly. Case 3 supports the suggestion that MRI is possibly a reliable substitute for liver biopsy.