Hepatic glycogenosis in glycogenic hepatopathy and Metabolic dysfunction associated fatty liver disease

Abstract

Background: Glycogenic hepatopathy (GH) is a rare complication of uncontrolled type 1 diabetes mellitus (T1DM) in children and was originally described as Mauriac syndrome. Identified as a prominent glycogenosis of hepatocytes, it has also been reported in adults in other conditions, including type 2 diabetes mellitus (T2DM). It clinically mimics Metabolic dysfunction associated fatty liver disease (MAFLD). The study describes five cases of glycogenic hepatopathy and compares the clinicopathological findings with that of MAFLD. Methods: Cases with hepatic parenchymal glycogenosis diagnosed during the study period were included. These cases were grouped into glycogenic hepatopathy and MAFLD based on their histological features and corresponded with their transaminase levels. Results: Out of 261 liver biopsies received during the study period (3 years), 16 cases with parenchymal glycogenosis were included in the study. Cases with pale, rarefied, enlarged hepatocytes (periodic acid Schiff-positive, diastase sensitive) with prominent plasma membranes with diffuse glycogenosis were diagnosed as GH (Group 1). Five cases of GH were identified, all females, associated with T2DM (n = 3), hypothyroidism (n = 1) and elevated liver enzymes (n = 5). Normalization of enzymes after glycemic control was seen in n = 3/5 cases. The remaining 11 cases (Group 2) showed hepatic steatosis, focal hepatic glycogenosis & fibrosis with persistent elevation of liver enzymes following treatment. Conclusions: All cases of glycogenic hepatopathy in this study were females and none of them were associated with type 1 diabetes mellitus, which is implicated as the most common underlying etiology worldwide. This study suggests that glycogenic hepatopathy may be more common in adults with T2DM or other metabolic derangements than anticipated and have a female preponderance.