the Bright Liver of Glycogenic Hepatopathy

Abstract

A 27-year-old man with poorly controlled type 1 diabetes mellitus (average hemoglobin A1c of 15%) presented with a 1-week history of progressive pressure-like right upper abdominal discomfort associated with early satiety and nausea. On physical exam, he had firm hepatomegaly extending into the right pelvis. Laboratory testing revealed an aspartate aminotransferase ϭ 6720 U/L (normal, 8-43 U/L), alanine aminotransferase level ϭ 2549 U/L (normal, 7-45 U/L), alkaline phosphatase ϭ 529 U/L (normal, 41-108 U/L), total bilirubin ϭ 1.7 mg/dL (normal 0.1-1.0 mg/dL), with direct bilirubin ϭ 1.5 mg/dL (normal 0.0-0.3 mg/dL) and a normal international normalized ratio. A computed tomography (CT) scan of the abdomen showed massive hepatomegaly of increased density as compared to the spleen (Fig. 1). Infectious and autoimmune causes of liver disease were excluded by laboratory testing. A liver biopsy was obtained and revealed preserved parenchymal architecture and enlarged pale hepatocytes (Fig. 2) with abundant cytoplasmic glycogen deposits demonstrated by periodic acid-Schiff stain (Fig. 3) and diastase digestion removing the glycogen resulting in "ghost cells" (Fig. 4). These histologic findings are characteristic of glycogenic hepatopathy.The combination of a history of poorly controlled diabetes mellitus, acute liver injury indicated by marked elevation in aminotransferases, and the characteristic histologic changes on liver biopsy are diagnostic of glycogenic hepatopathy. 1 It was first described as part of

Glycogenic Hepatopathy With Persistent Hepatomegaly in a Patient With Uncontrolled Type 1 Diabetes

“…Interestingly, liver dysfunction, even though severe, resolved spontaneously via glycemic control without any specific treatment. This transient elevation of liver enzymes in an uncontrolled T1DM patient is consistent with a diagnosis of GH, as reported previously by several investigators [2][3][4][5][6][7]. GH is usually a transient condition with unknown long-term complications.…”

“…While most liver dysfunction associated with insulin treatment in uncontrolled T1DM patients is mild and does not alter management, evidence has accumulated over the last decade that transaminitis can be severe, leading to unnecessary investigation and invasive procedures [6,7]. Our patient underwent extensive evaluation including laboratory and imaging tests looking for underlying etiologies prior to getting a liver biopsy, which definitively diagnosed GH.…”

“…GH typically presents with abdominal pain, marked hepatomegaly and transaminitis in patients with poorly controlled T1DM. Although several recent cases report resolution of these clinical abnormalities with improved glycemic control, knowledge of long-term outcomes of these patients is still insufficient [2][3][4][5][6][7]. We present a case of GH with persistent marked hepatomegaly over 5 years despite normalization of liver enzymes in a patient with uncontrolled T1DM.…”

A case of glycogenic hepatopathy developed in a patient with new-onset fulminant type 1 diabetes: the role of image modalities in diagnosing hepatic glycogen deposition including gradient-dual-echo MRI

“…On the other hand, Sweetser et al reported the usefulness of CT examination for distinguishing GH from NAFLD; the liver density on CT in patients with GH is increased, whereas it is decreased in patients with fatty liver. Therefore, they claimed that increased liver density in the CT examination would be a clue for the diagnosis of GH (Table 1) [24]. Doppman et al indeed reported a dose-dependent increase and decrease in CT density as the glycogen content increases and as fat content increases, respectively, by studying artificial specimens [25].…”

“…©The Japan Endocrine Society Submitted Feb. 24,2012; Accepted Apr. 16, 2012 as EJ12-0081 Released online in J-STAGE as advance publication May 12, 2012 Correspondence to: Ichiro Horie, M.D., Ph.D., Department of Internal Medicine, National Hospital Organization Saga National Hospital, Saga 849-8577, Japan E-mail: holy197741@hotmail.com examination of the liver showed a mild bright liver ( Fig.…”