(3.02) Hepatic glycogenosis, vicissitude in the diagnosis.

Introduction : Hepatic glycogenosis (HG) is a complex metabolic process characterized by glycogen accumulation in the liver and is associated with poorly controlled Type 1 Diabetes Mellitus (T1DM). Hyperglycemia in the presence of insulin overdose can cause excessive production and storage of glycogen in the liver, resulting in HG and elevation of serum aminotransferase. This case highlights the potential HG complications associated with diabetic ketoacidosis (DKA) in patients with T1DM and the importance of closely monitoring liver function, mainly when high insulin doses are used to achieve glycemic control. HG is considered a reversible condition and requires ruling out other liver diseases (e.g., NASH/NAFLD) if the patient presents metabolic syndrome. Currently, fluctuations in glycemia and insulinemia are also essential factors in T1DM-related liver steatosis. Since liver biopsy is the diagnostic method showing glycogen accumulation, MRI may exclude fat deposition as a cause of liver hype-echogenicity and rule out fatty liver disease. Early recognition and appropriate management of hepatic glycogenosis can help prevent long-term liver damage and improve outcomes for patients with T1DM.

Case(s) Description : A 29-year-old male with no medical history presented to the emergency department with diarrhea and vomiting. He was diagnosed with DKA and a new onset of T1DM with a high blood glucose level of 540 mg/dL, low serum pH, and low bicarbonate. The patient was admitted to the ICU and started on insulin therapy, and his blood sugar levels gradually decreased. However, he developed an increase in transaminase levels and hepatomegaly and was found to have hepatic steatosis by CT abdomen. Nevertheless, transaminase levels and hepatomegaly gradually improved once the patient's insulin therapy was adjusted to achieve tighter glucose control. He was discharged from the hospital with close follow-up.

Discussion : The marked serum aminotransferase elevations within days of starting high IV insulin doses in the setting of sustained hyperglycemia status could represent acute glycogenosis. Therefore, the prompt recognition of HG and appropriate management of HG in this patient, including ruling out other liver conditions, adjustment of insulin therapy, and close monitoring of liver function, must be emphasized to prevent long-term liver damage and improve outcomes for these patients. However, further research is required to understand this condition better and identify noninvasive diagnostic tests.