glycogen and Abdominal-Pain

Glycogenic hepatopathy (GH) is a disorder associated with uncontrolled diabetes mellitus, most commonly type 1, expressed as right upper quadrant abdominal pain, hepatomegaly and increased liver enzymes. The diagnosis may be difficult, because laboratory and imaging tests are not pathognomonic. Although GH may be suggested based on clinical presentation and imaging studies, the gold standard for diagnosis is a liver biopsy, showing a significant accumulation of glycogen within the hepatocytes. GH may be diagnosed also after elevated liver enzymes in routine blood tests. GH usually regresses after tight glycemic control. Progression to end-stage liver disease has never been reported. This review aims to increase the awareness to this disease, to suggest a pathway for investigation that may reduce the use of unnecessary tests, especially invasive ones.. A PubMed database search (up to July 1, 2017) was done with the words "glycogenic hepatopathy", "hepatic glycogenosis", "liver glycogenosis" and "diabetes mellitus-associated glycogen storage hepatopathy". Articles in which diabetes mellitus-associated liver glycogen accumulation was described were included in this review.. A total of 47 articles were found, describing 126 patients with GH. Hepatocellular disturbance was more profound than cholestatic disturbance. No synthetic failure was reported.. GH may be diagnosed conservatively, based on corroborating medical history, physical examination, laboratory tests, imaging studies and response to treatment, even without liver biopsy. In case of doubt about the diagnosis or lack of clinical response to treatment, a liver biopsy may be considered. There is no role for noninvasive tests like fibroscan or fibrotest for the diagnosis of GH or for differentiation of this situation from nonalcoholic fatty liver disease.

Topics: Abdominal Pain; Adolescent; Adult; Biomarkers; Biopsy; Child; Diabetes Mellitus, Type 1; Diagnosis, Differential; Female; Glycogen; Hepatomegaly; Humans; Hypoglycemic Agents; Liver; Liver Function Tests; Male; Pancreas Transplantation; Predictive Value of Tests; Prognosis; Risk Factors; Young Adult

Glycogenic hepatopathy (GH) is an underdiagnosed complication of uncontrolled type 1 diabetes mellitus (T1DM). It appears as an acute relapsing hepatitis with reversible transaminase elevations secondary to excessive hepatic glycogen accumulation. Patients are often asymptomatic but can present with abdominal pain, nausea and vomiting. Physical examination shows hepatomegaly without splenomegaly. GH is diagnosed by biopsy as it is clinically indistinguishable from non-alcoholic fatty liver disease (NAFLD), a more common cause of hepatic dysfunction in diabetics. Here we describe a case of GH in a patient with uncontrolled type 1 diabetes whose clinical course was complicated by drug-induced liver injury. The patient initially presented with diabetic ketoacidosis and had a mild transaminitis, thought to be due to NAFLD. She developed profound transaminase elevations while receiving treatment with newer antipsychotic medications for her bipolar disorder. Liver biopsy showed evidence of resolving glycogenic hepatopathy with signs of drug-induced liver injury. This case report reviews the pathology and pathogenesis of GH and reminds the clinician to keep GH within the differential diagnosis for severe transaminitis in a patient with type 1 diabetes mellitus.

Topics: Abdominal Pain; Antipsychotic Agents; Biopsy; Bipolar Disorder; Chemical and Drug Induced Liver Injury; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Diagnosis, Differential; Dibenzocycloheptenes; Female; Glycogen; Hepatomegaly; Heterocyclic Compounds, 4 or More Rings; Humans; Liver; Magnetic Resonance Imaging; Young Adult

Topics: Abdominal Pain; Adult; Diabetes Mellitus, Type 1; Diagnosis, Differential; Epilepsy; Female; Glycated Hemoglobin; Glycogen; Humans; Hypoglycemic Agents; Insulin; Liver; Liver Diseases; Liver Function Tests; Ultrasonography