S2880 Mahvash Disease: A Case of Recurrent Liver Failure in the Setting of Octreotide Administration

Abstract

Introduction: Mahvash Disease is a rare autosomal recessive disease characterized by an impairment in the glucagon receptor gene (GCGR) on the liver rendering it unresponsive to glucagon. The loss of this feedback mechanism results in reactive α-cell hyperplasia often leading to a pancreatic neuroendocrine tumor (PNET) as well as an overall catabolic state. Here, we present a case of Mahvash disease in a young woman that initially presented with hematemesis. Case Description/Methods: A 27 y.o. female presented following three episodes of small volume hematemesis. Laboratory evaluation was notable for anemia (Hgb 5.9 g/dL) and a mild transaminitis (Table 1). Imaging at the time was concerning for chronic pancreatitis and likely hepatic cirrhosis (Figure 1A). EGD revealed evidence of portal hypertension, and EUS with FNA of the pancreas revealed multiple subcentimeter cysts, calcifications, but no masses. Pathology from the FNA was consistent with a well-differentiated neuroendocrine tumor. An outpatient liver biopsy revealed chronic hepatitis with signs of portal hypertension. PET scan revealed diffusely increased pancreatic somatostatin uptake (Figure 1B). Patient was diagnosed with an islet-cell glucagonoma and initiated on monthly octreotide injections. Four days following the third octreotide injection, she presented with slurred speech and lethargy. She developed acute liver and renal failure, which improved with supportive management (Table 1). Two months later, she again presented with lethargy and significant hyperammonemia. Octreotide was re-trialed given its previous success in minimizing her hyperammonemia, and she again developed acute liver failure fourteen hours after administration. Discussion: Octreotide has been shown to improve hyperglucagonemia, and there a very few reports recurrent liver injury associated with octreotide use. To our knowledge, this is the first reported case of recurrent liver failure in Mahvash Disease associated with octreotide. Management has followed other hereditary PNET syndromes, which includes active surveillance for small masses (<2 cm) and resection for larger masses. Somatostain analogues have been used to suppress hyperglucagonemia post resection, but the efficacy as a treatment is currently unknown. Finally, there appears to be a theoretical benefit to liver transplantation given that the etiology of the syndrome is due to defective hepatic glucagon receptors. However, there currently are no studies evaluating this treatment option due to the scarcity of cases.Figure 1.: Coronal abdominal computed tomography images showing hepatomegaly and significant pancreatomegaly with speckled calcifications and cystic structures throughout (1A). Axial positron emission tomography images revealing diffuse pancreatic uptake of octreotide (1B).Table 1