Haematological Problem Given the Normal Blood Test : A Part from the Book Chapter : Case Report and Literature Review on Glycogen Hepatopathy

glycogenic hepatopathy

The patient’s blood test reveals a normal full blood count, CRP, ESR, kidney function and normal pH and bicarbonate. Random blood sugar was 17 mmol and HBA1C was 10. Liver panel showed ALT 800 U/L, AST 900 U/L, Bilirubin 17 umol/L, Gamma-GT 290 U/L (<125), INR 1, Albumin 44 g/L (35-40), Total Protein 2.4 g/dL.

Despite a normal bilirubin, the patient was given a diagnosis of acute hepatitis. Hepatitis A, B, C, D, E serology, alpha-1 antitrypsin, anti-smooth muscle antibodies, anti-LKM, ANA, soluble liver antigen, mitochondrial antibodies, serum ceruloplasmin, 24 hours urinary copper, serum lipase and amylase were ordered, however, did not yield any abnormal results. Although iron studies found that ferritin was 1000 and transferrin saturation was 20%.

Given the high AST/ALT ratio, the patient was diagnosed was steatohepatitis and hemochromatosis. The genetic panel for hemochromatosis including C282Y and H63D were negative. A surgical consultation was sought to rule out cholecystitis, which was achieved with ultrasound showing no biliary dilation, no gall bladder wall thickness or pericholecystic. Haematology consultation stated that it was unlikely to be a haematological problem given the normal blood test. Liver service was consulted, who advised for liver biopsy, however, this was declined by the patient. The patient was provided supportive care, their dose of insulin was increased and they were booked in for outpatient clinic.

Author(s) Details:

Adel Ekladious
Acute Medical Unit, Canberra Hospital, ACT Health, Australia, University of Western Australia, Australia and Australian National University, Australia.


Also See : Glucose and dextrose (d-glucose) injections have been used for several decades in Prolotherapy : A Part from The Book : Glucopuncture: A Clinical Guide to Regional Glucose 5% Injections


Recent Global Research Developments in Clinical Manifestations and Management of Glycogenic Hepatopathy

Definition: Glycogenic hepatopathy is characterized by the combination of poorly controlled diabetes, acute liver injury with elevated serum aminotransferases, and specific histological changes on liver biopsy. These changes involve extensive glycogen accumulation in hepatocyte nuclei [1].

Clinical Presentation:

  • Patients may present with symptoms such as abdominal pain, vomiting, and breathlessness.
  • Hepatomegaly (enlarged liver) is often observed.
  • Laboratory findings include elevated liver enzymes (e.g., alanine aminotransferase, γ-glutamyl transferase) and abnormal lipid profiles.
  • Imaging (such as MRI) may reveal hepatomegaly without cirrhosis or other focal lesions [1].

Diagnosis:

  • Liver biopsy is crucial for diagnosis. Histologically, glycogenation of hepatocyte nuclei is evident, and periodic acid Schiff stain confirms glycogen accumulation.
  • Other causes of liver injury should be excluded [1].

Management:

  • Improving glycemic control is essential. Intensive insulin therapy, including continuous subcutaneous insulin infusion (insulin pump therapy), can lead to resolution.
  • Lifestyle modifications, education on carbohydrate counting, and lipid management are also important.
  • Regular follow-up and monitoring are necessary to assess liver function and glycemic control [1].

For further reading, you can refer to the following journal articles:

  • Glycogenic Hepatopathy in Type 1 Diabetes: An Underrecognized Condition (Diabetes Care, 2013)
  • Glycogenic hepatopathy: A narrative review (World J Hepatol, 2018)  [2]

References

  1. Imtiaz, K. E., Healy, C., Sharif, S., Drake, I., Awan, F., Riley, J., & Karlson, F. (2013). Glycogenic hepatopathy in type 1 diabetes: an underrecognized condition. Diabetes care, 36(1), e6-e7.
  2. Sherigar, J. M., De Castro, J., Yin, Y. M., Guss, D., & Mohanty, S. R. (2018). Glycogenic hepatopathy: a narrative review. World journal of hepatology, 10(2), 172.

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