Background: 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...Background: 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.Data sources: A Pub Med 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.Results: 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.Conclusions: 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.展开更多
Glycogenic hepatopathy(GH) is a rare complication of the poorly controlled diabetes mellitus characterized by the transient liver dysfunction with elevated liver enzymes and associated hepatomegaly caused by the rever...Glycogenic hepatopathy(GH) is a rare complication of the poorly controlled diabetes mellitus characterized by the transient liver dysfunction with elevated liver enzymes and associated hepatomegaly caused by the reversible accumulation of excess glycogen in the hepatocytes. It is predominantly seen in patients with longstanding type 1 diabetes mellitus and rarely reported in association with type 2 diabetes mellitus. Although it was first observed in the pediatric population, since then, it has been reported in adolescents and adults with or without ketoacidosis. The association of GH with hyperglycemia in diabetes has not been well established. One of the essential elements in the pathophysiology of development of GH is the wide fluctuation in both glucose and insulin levels. GH and non-alcoholic fatty liver disease(NAFLD) are clinically indistinguishable, and latter is more prevalent in diabetic patients and can progress to advanced liver disease and cirrhosis. Gradient dual-echo MRI can distinguish GH from NAFLD; however, GH can reliably be diagnosed only by liver biopsy. Adequate glycemic control can result in complete remission of clinical, laboratory and histological abnormalities. There has been a recent report of varying degree of liver fibrosis identified in patients with GH. Future studies are required to understand the biochemical defects underlying GH, noninvasive, rapid diagnostic tests for GH, and to assess the consequence of the fibrosis identified as severe fibrosis may progress to cirrhosis. Awareness of this entity in the medical community including specialists is low. Here we briefly reviewed the English literature on pathogenesis involved, recent progress in the evaluation, differential diagnosis, and management.展开更多
BACKGROUND It has been studied that fluctuating glucose levels may superimpose glycated hemoglobin in determining the risk for diabetes mellitus(DM)complications.While non-alcoholic steatohepatitis(NASH)remains a pred...BACKGROUND It has been studied that fluctuating glucose levels may superimpose glycated hemoglobin in determining the risk for diabetes mellitus(DM)complications.While non-alcoholic steatohepatitis(NASH)remains a predominant cause of elevated transaminases in Type 2 DM due to a strong underplay of metabolic syndrome,Type 1 DM can contrastingly affect the liver in a direct,benign,and reversible manner,causing Glycogen hepatopathy(GH)-with a good prognosis.CASE SUMMARY A 50-year-old female with history of poorly controlled type 1 DM,status post cholecystectomy several years ago,and obesity presented with nausea,vomiting,and abdominal pain.Her vitals at the time of admission were stable.On physical examination,she had diffuse abdominal tenderness.Her finger-stick glucose was 612 mg/dL with elevated ketones and low bicarbonate.Her labs revealed abnormal liver studies:AST 1460 U/L,ALP:682 U/L,ALP:569 U/L,total bilirubin:0.3mg/dL,normal total protein,albumin,and prothrombin time/international normalized ratio(PT/INR).A magnetic resonance cholangiopancreatography(MRCP)demonstrated mild intra and extra-hepatic biliary ductal dilation without evidence of choledocholithiasis.She subsequently underwent a diagnostic ERCP which showed a moderately dilated CBD,for which a stent was placed.Studies for viral hepatitis,Wilson’s Disease,alpha-1-antitrypsin,and iron panel came back normal.Due to waxing and waning transaminases during the hospital course,a liver biopsy was eventually done,revealing slightly enlarged hepatocytes that were PAS-positive,suggestive of glycogenic hepatopathy.With treatment of hyperglycemia and ensuing strict glycemic control,her transaminases improved,and she was discharged.CONCLUSION With a negative hepatocellular and cholestatic work-up,our patient likely had GH,a close differential for NASH but a poorly recognized entity.GH,first described in 1930 as a component of Mauriac syndrome,is believed to be due to glucose and insulin levels fluctuation.Dual echo magnetic resonance imaging sequencing and computed tomography scans of the liver are helpful to differentiate GH from NASH.Still,liver biopsy remains the gold standard for diagnosis.Biopsy predominantly shows intra-cellular glycogen deposition,with minimal or no steatosis or inflammation.As GH is reversible with good glycemic control,it should be one of the differentials in patients with brittle diabetes and elevated transaminases.GH,however,can cause a dramatic elevation in transaminases(50-1600 IU/L)alongside hepatomegaly and abdominal pain that would raise concern for acute liver injury leading to exhaustive work-up,as was in our patient above.Fluctuation in transaminases is predominantly seen during hyperglycemic episodes,and proper glycemic control is the mainstay of the treatment.展开更多
文摘Background: 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.Data sources: A Pub Med 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.Results: 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.Conclusions: 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.
文摘Glycogenic hepatopathy(GH) is a rare complication of the poorly controlled diabetes mellitus characterized by the transient liver dysfunction with elevated liver enzymes and associated hepatomegaly caused by the reversible accumulation of excess glycogen in the hepatocytes. It is predominantly seen in patients with longstanding type 1 diabetes mellitus and rarely reported in association with type 2 diabetes mellitus. Although it was first observed in the pediatric population, since then, it has been reported in adolescents and adults with or without ketoacidosis. The association of GH with hyperglycemia in diabetes has not been well established. One of the essential elements in the pathophysiology of development of GH is the wide fluctuation in both glucose and insulin levels. GH and non-alcoholic fatty liver disease(NAFLD) are clinically indistinguishable, and latter is more prevalent in diabetic patients and can progress to advanced liver disease and cirrhosis. Gradient dual-echo MRI can distinguish GH from NAFLD; however, GH can reliably be diagnosed only by liver biopsy. Adequate glycemic control can result in complete remission of clinical, laboratory and histological abnormalities. There has been a recent report of varying degree of liver fibrosis identified in patients with GH. Future studies are required to understand the biochemical defects underlying GH, noninvasive, rapid diagnostic tests for GH, and to assess the consequence of the fibrosis identified as severe fibrosis may progress to cirrhosis. Awareness of this entity in the medical community including specialists is low. Here we briefly reviewed the English literature on pathogenesis involved, recent progress in the evaluation, differential diagnosis, and management.
文摘BACKGROUND It has been studied that fluctuating glucose levels may superimpose glycated hemoglobin in determining the risk for diabetes mellitus(DM)complications.While non-alcoholic steatohepatitis(NASH)remains a predominant cause of elevated transaminases in Type 2 DM due to a strong underplay of metabolic syndrome,Type 1 DM can contrastingly affect the liver in a direct,benign,and reversible manner,causing Glycogen hepatopathy(GH)-with a good prognosis.CASE SUMMARY A 50-year-old female with history of poorly controlled type 1 DM,status post cholecystectomy several years ago,and obesity presented with nausea,vomiting,and abdominal pain.Her vitals at the time of admission were stable.On physical examination,she had diffuse abdominal tenderness.Her finger-stick glucose was 612 mg/dL with elevated ketones and low bicarbonate.Her labs revealed abnormal liver studies:AST 1460 U/L,ALP:682 U/L,ALP:569 U/L,total bilirubin:0.3mg/dL,normal total protein,albumin,and prothrombin time/international normalized ratio(PT/INR).A magnetic resonance cholangiopancreatography(MRCP)demonstrated mild intra and extra-hepatic biliary ductal dilation without evidence of choledocholithiasis.She subsequently underwent a diagnostic ERCP which showed a moderately dilated CBD,for which a stent was placed.Studies for viral hepatitis,Wilson’s Disease,alpha-1-antitrypsin,and iron panel came back normal.Due to waxing and waning transaminases during the hospital course,a liver biopsy was eventually done,revealing slightly enlarged hepatocytes that were PAS-positive,suggestive of glycogenic hepatopathy.With treatment of hyperglycemia and ensuing strict glycemic control,her transaminases improved,and she was discharged.CONCLUSION With a negative hepatocellular and cholestatic work-up,our patient likely had GH,a close differential for NASH but a poorly recognized entity.GH,first described in 1930 as a component of Mauriac syndrome,is believed to be due to glucose and insulin levels fluctuation.Dual echo magnetic resonance imaging sequencing and computed tomography scans of the liver are helpful to differentiate GH from NASH.Still,liver biopsy remains the gold standard for diagnosis.Biopsy predominantly shows intra-cellular glycogen deposition,with minimal or no steatosis or inflammation.As GH is reversible with good glycemic control,it should be one of the differentials in patients with brittle diabetes and elevated transaminases.GH,however,can cause a dramatic elevation in transaminases(50-1600 IU/L)alongside hepatomegaly and abdominal pain that would raise concern for acute liver injury leading to exhaustive work-up,as was in our patient above.Fluctuation in transaminases is predominantly seen during hyperglycemic episodes,and proper glycemic control is the mainstay of the treatment.
