P1837 - A Rare Liver Disease or a Common Culprit of Hepatopathy?

Amir Riaz, MD¹, Christine Girard, MD², Sikandar Khan, MD³, Astrid Rodriguez, MD², Adalberto Gonzalez, MD², Kanwarpreet Tandon, MD², Zaid Rana, DO^4
1Cleveland Clinic Florida, Miami, FL; ²Cleveland Clinic Florida, Weston, FL; ³Digestive Disease Institute, Cleveland Clinic Foundation, Weston, FL; ⁴Larkin Community Hospital, South Miami, FL

Introduction: Glycogenic hepatopathy (GH) is a rare disease found in patients with uncontrolled type 1 diabetes mellitus (DMT1). Though the exact incidence and prevalence of GH is unknown, it is believed to be underreported. It occurs mainly in patients with poorly controlled DMT1 and frequent episodes of diabetic ketoacidosis (DKA). GH occurs secondary to excessive accumulation of glycogen in the hepatocytes, resulting in both hepatomegaly and elevation of transaminases. With tight glycemic control, this condition is potentially reversible. Though imaging can be suggestive of GH, ultimately the definitive diagnosis requires a liver biopsy.

Case Description/Methods: An 18-year-old biracial male presented to the emergency department due to right upper quadrant (RUQ) abdominal pain for three days. He reported falling off his bicycle with mild trauma to the abdomen prior to pain onset. His pain was associated with nausea and one episode of emesis. Past medical history was notable for uncontrolled DMT1 and recurrent admissions for DKA. Physical exam was notable for dry mucous membranes and marked RUQ abdominal tenderness. Laboratory studies showed blood glucose 520 g/dL, bicarbonate 12 mmol/L, anion gap 38 mEq/L, ß-hydroxybutyrate 10.80 mmol/L, lipase 392 U/L, ALT 1268 U/L, AST 1639 U/L, ALP 797 U/L, total bilirubin 8.5 mg/dL, triglycerides 549 mg/dL, andhemoglobin A1c 12.6%. A venous blood gas revealed pH 7.29 and urinalysis indicated glycosuria. IV contrast enhanced CT abdomen and pelvis revealed hepatomegaly, periportal edema, and chronic pancreatic atrophy. Magnetic resonance cholangiopancreatography revealed a hydropic gall bladder without evidence of cholelithiasis nor obstruction and severe hepatomegaly. Subsequent liver biopsy revealed histopathologic evidence of GH.

Discussion: GH is a rare diagnosis seen in patients with poorly controlled hyperglycemia. Though a degree of suspicion of GH should remain in patients with uncontrolled DMT1 presenting with hepatomegaly and transaminitis, other etiologies must be excluded. Notably, GH presents similarly to non-alcoholic fatty liver disease (NAFLD), a much more common entity. Though both conditions present similarly, differentiating these two conditions is crucial. NAFLD can lead to non-alcoholic hepatosteatosis (NASH) with potential to lead to cirrhosis, while GH can resolve with tight glycemic and very rare transformation to hepatic fibrosis. Ultimately, making the proper diagnosis is essential as management and overall prognosis depends on the diagnosis.


Disclosures:
Amir Riaz indicated no relevant financial relationships.
Christine Girard indicated no relevant financial relationships.
Sikandar Khan indicated no relevant financial relationships.
Astrid Rodriguez indicated no relevant financial relationships.
Adalberto Gonzalez indicated no relevant financial relationships.
Kanwarpreet Tandon indicated no relevant financial relationships.
Zaid Rana indicated no relevant financial relationships.


Amir Riaz, MD¹, Christine Girard, MD², Sikandar Khan, MD³, Astrid Rodriguez, MD², Adalberto Gonzalez, MD², Kanwarpreet Tandon, MD², Zaid Rana, DO⁴. P1837 - A Rare Liver Disease or a Common Culprit of Hepatopathy?, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.