Case Presentation: A 19-year-old male with a history of trauma, depression, anxiety, foster system placement, and poorly controlled type 1 diabetes mellitus (T1DM) (A1C>14) with frequent admissions for diabetic ketoacidosis (DKA) presented with presyncope and 2 weeks of severe epigastric and RUQ abdominal pain. He endorsed inconsistent insulin use and frequent dietary indiscretion in part due to his job where he had demanding hours and unpredictable shift schedules. Laboratory evaluation revealed hyperglycemia and DKA with elevated AST/ALT that increased to a peak of 3,591 and 1,245 U/L respectively. Total bilirubin and INR were normal. He denied medication or supplement changes, new sexual partners, or drug use. Acetaminophen level, viral testing (hepatitis A, B, C, EBV, HSV, CMV), rheumatologic studies (ANA, ASMA, LKM, IgG), and ceruloplasmin were unremarkable. RUQ ultrasound followed by MRCP showed significant hepatic enlargement to 24 cm without cholelithiasis, choledocholithiasis, or biliary duct dilation. The patient was discharged after improvement in his abdominal pain, glycemic control and LFTs. Liver biopsy performed 3 months later showed sinusoidal congestion and perisinusoidal fibrosis with negative iron stain and no definitive glycogenated nuclei. Despite the absence of classic biopsy findings for Glycogenic Hepatopathy (GH), GH was thought to be the most likely diagnosis given otherwise negative testing and remission of symptoms with improved glycemic control.
Discussion: GH is a rare complication of uncontrolled T1DM that presents with abdominal pain and elevated LFTs. This occurs due to excess hepatic glycogen accumulation from long standing hyperglycemia and is exacerbated by DKA treatment with high insulin doses, which stimulates glycogen formation and inhibits glycogenolysis (1). After ruling out alternative etiologies including viral, autoimmune, and drug-induced hepatitis, liver biopsy is the gold standard for diagnosis, showing enlarged hepatocytes with glycogen accumulation (2). Histologic changes often resolve with improved glycemic control. GH offers a unique opportunity to counsel patients to improve their glycemic control, which relieves symptoms and is associated with resolution of pathologic changes (2). Despite advances in the care of T1DM over the last decade, socioeconomic and racial inequities have only widened (3-4). Exposure to adverse childhood events is independently associated with poor glycemic control (5). As seen in this patient, emerging adulthood is a uniquely vulnerable period when patients with T1DM undergo medical, social, and developmental transitions that place them at risk for suboptimal glycemic control, frequent hospitalizations, and diabetes complications (6-7). GH for this patient likely stemmed from poor glycemic control as a culmination of these systemic conditions.
Conclusions: We present an adolescent with GH due to poorly controlled T1DM. Given the condition’s rarity and the need for liver biopsy for definitive diagnosis, GH requires a high clinical index of suspicion. The diagnosis is especially relevant to hospitalists, who are an important source of medical care and social support for high-risk patients with T1DM who may have barriers to regular outpatient follow-up. This case illustrates the need for interventions directed to improve the socioeconomic and systemic gaps which predispose patients with T1DM to complications from their disease.