A Case Report about Glycogenic Hepatopathy

Abstract

Introduction. Glycogenic hepatopathy is a rare complication of uncontrolled diabetes mellitus that presents with hepatomegaly and transient elevation in serum aminotransferase enzymes. The underlying pathophysiology involves excessive accumulation of intrahepatic glycogen. Glycogenic hepatopathy is usually underdiagnosed because it is difficult to differentiate from other entities, such as the nonalcoholic fatty liver. The gold standard for diagnosis is liver biopsy. Glycogenic hepatopathy can be reversed by the achievement of adequate glycemic control. Case description. A 19-year-old female patient with a history of poorly controlled type 1 diabetes mellitus that resulted in several episodes of diabetes ketoacidosis requiring hospital admissions. The patient presented to the emergency room with generalized weakness and fatigue found to have diabetic ketoacidosis. Blood tests revealed abnormal liver function with aspartate aminotransferase 1129 U/L (13–37 U/L), alanine aminotransferase 766 U/L (13–56 U/L), alkaline phosphatase 216 U/L (45–117 U/L), total bilirubin 1.0 mg/dL (0.2–1.3 mg/dL), albumin 3.8 g/dL (3.4–5.0 g/dL), partial thromboplastin time < 20 s (23–31 s), prothrombin time 11.8 s (9.5–11.5 s), and international normalized ratio 1.1. Acute hepatitis serologies were negative. Epstein–Barr virus and cytomegalovirus were ruled out. Extensive autoimmune hepatitis tests were negative. Primary biliary cirrhosis was also ruled out. A liver biopsy was obtained, which was diagnostic of glycogenic hepatopathy. Conclusion. Glycogenic hepatopathy must be suspected in patients with uncontrolled type 1 diabetes mellitus who present with elevated liver enzymes and hepatomegaly. Treating this rare condition requires a timely diagnosis with liver biopsy and strict glycemic control.

Persistent Lactatemia in Mauriac Syndrome

“…It has become much less common with the advent of modern preparations of long and short acting insulins [ 1 , 3 ]. The exact cause of Mauriac syndrome is unknown, though it is hypothesized to be caused by poor uptake and utilization of glucose by tissues, decreased insulin-like growth factor-1 and growth hormone levels, and hypercortisolism, that then result in developmental delays [ 3 , 4 , 6 , 9 ]. As this is a very rare disorder, there are no formal diagnostic criteria for Mauriac syndrome.…”

“…It is unclear why only some patients with chronically elevated blood glucose levels develop glycogenic hepatopathy. Several gene mutations in enzymes involved in glycogen metabolism, such as PHGK2 [ 11 ], have been investigated as culprits, but none thus far show clear association with the disease [ 4 , 9 , 10 , 12 ].…”

“…Te main hallmarks of this syndrome are hepatomegaly with altered liver enzymes, growth delay, delayed puberty, and cushingoid features [3]. Te altered liver enzymes are due to hepatic glycogenosis caused by chronically elevated blood glycose levels [4,5]. Te liver dysfunction can also lead to persistent lactatemia that can transiently worsen with DKA and persist after resolution of DKA [5][6][7].…”