Endocrine Abstracts

Introduction: Glycogenic hepatopathy(GH) refers to excessive intrahepatic glycogen accumulation in patients with poorly controlled diabetes mellitus especially type 1 diabetes mellitus. It is a rare and frequently misdiagnosed complication of diabetes mellitus. The patients present with non-specific pain abdomen may be incidentally detected during evaluation of deranged liver function tests(LFT).

Case report: A 15 years old female presented with pain abdomen, nausea and lethargy for last ten days. She was a known case of type 1 diabetes mellitus for last two years and was currently on multiple daily subcutaneous insulin injection regimen. However, her glycemic control was very poor due to poor compliance and she had three episodes of diabetic ketoacidosis(DKA) in the past. Clinical evaluation revealed presence of lethargy and dehydration. Hepatomegaly(palpable 5 cm below costal margin) was also seen. Blood investigations revealed presence of DKA. Blood gas analysis showed arterial pH 7.1 and bicarbonate level of 12 meq/l. Her random blood glucose at the time of hospitalization was 435 mg/dl and HbA1c was 12.9 %. Urine analysis confirmed presence of ketonuria (urine ketone 3+). Renal function tests including serum electrolytes were normal. LFT revealed aspartate aminotransferase (AST) 208 IU/ml, alanine aminotransferase (ALT) 186 IU/ml and alkaline phosphatase (ALP) 198 U/l. The patient was managed with intravenous fluids, insulin infusion and other supportive measures as per DKA treatment protocol. After three days of treatment, the patient improved and she was transitioned to subcutaneous basal bolus insulin regimen. However, despite improvement in all other metabolic parameters, LFT derangement persisted. Abdominal ultrasonography showed hepatomegaly with gross hepatosteatosis without any other organ abnormality. Contrast enhanced computerized tomography also showed significant hepatomegaly with diffuse fatty infiltration. A thorough screening for liver disease markers including viral markers, autoimmune panel, coeliac disease, hemochromatosis and Wilson’s disease was negative. Subsequently, a liver biopsy as per advice of treating gastroenterologist was done and it confirmed presence of classical glycogen hepatopathy. The parents were counseled regarding nature of disease and advised to maintain strict glycemic control. Subsequently after three months post discharge, revaluation confirmed regression of hepatomegaly and significant normalization of liver function tests.

Conclusion: GH is a very rare metabolic complication of poorly controlled type 1 diabetes mellitus. It may be frequently missed or misdiagnosed if clinical vigil is not high. The treatment of choice for management of GH includes strict glycemic control, periodic follow up and prevention of DKA episodes recurrence.