Glycogenosis: A Rare Etiology of Transaminitis

Abstract

Hepatic glycogenosis is a rare etiology of elevated hepatic transaminases reported in the literature. Glycogenosis is associated with uncontrolled diabetes and can be confused with other forms of acute liver injury. This disease can be diagnosed via liver biopsy and reversed by ensuring tight glycemic control. Given this diagnosis is unrecognized but curable, we highlight a case of hepatic glycogenosis in a patient treated at our institution. Patient is a 24 year-old female with past medical history of depression and uncontrolled Diabetes Mellitus Type 1 with recurrent hospital admissions for Diabetic Ketoacidosis (DKA). She presented to the hospital with one day of nausea and vomiting; she was subsequently diagnosed with DKA, and admitted to the intensive care unit for further clinical care. The patient was initiated on fluids and insulin drip for DKA treatment and continued on her home regimen of duloxetine for depression management. Several days into her admission, the patient developed increases in aspartate transaminase (AST) and alanine transaminase (ALT), with initially normal then elevated alkaline phosphatase. Bilirubin and INR remained with normal limits. Over 10 days, lab values peaked with AST of 535, AST of 465, and alkaline phosphatase of 194. Initial serology including HBs Ag, HBc Ab, HCV Ab, CMV, EBV, HIV, ANA, AMA, antiSMA, and ferritin were negative. Given that there was no history of herbal intake or new hepatotoxic medications initiated, suspicion for drug induced liver injury was low, albeit remained on the differential. There were no episodes of hypotension or active infection throughout the admission. A right-upperquadrant ultrasound was performed with unremarkable findings. During previous admissions for DKA, there were similar acute instances of elevated liver-associated enzymes (Figure 1). Given concern of this recurrent transaminitis, a liver biopsy was pursued. Hematoxylin & eosin (H&E) staining revealed glycogen deposits with no hepatitis or fibrosis, convincing for a diagnosis of hepatic glycogenosis (Figure 2).Figure 1Figure 2Hepatic glycogenosis should be suspected in the appropriate clinical situation after other etiologies are ruled out. It is easily treatable with strict glycemic control. Given the reversibility of liver injury in these patients, raising awareness about an underreported and unrecognized disease is undoubtedly clinically significant in medical practice.