Benign pancreatic hyperenzymemia: Gullo's syndrome

Abstract

Carlo, a 2-year-old boy, was referred to our Unit for a chronic diarrhoea. His medical history revealed a San Diego hemoglobinopathy and Gilbert disease, family history was also positive for celiac disease. Clinical examination was normal. Laboratory investigations revealed unexpected hyperamylasemia (total amylase 257 U/L and pancreatic amylase 196 U/L), hyperlipasemia (199 U/L), and mild hyperbilirubinemia, mainly indirect. Celiac disease was excluded. Further investigation as TORCH and EBV serology, coagulation, insulin, C-peptide and islet cell antibodies, erythrocyte sedimentation rate, C-reactive protein, autoimmunity, sweat test and urinary amylase were negative. Abdominal echography and MRI were normal. During the 5 years follow-up, laboratory investigations confirmed the hyperamylasemia with fluctuating values, but always above the standard values for age. Excluding pancreatic and extra pancreatic pathologies, Gullo's syndrome has been suggested. This condition may occur sporadically or in a familial form. It is asymptomatic and the hyperenzymemia can persist for years. Etiology is still not clear, it has been reported defects in the passage of enzymes from Golgi network to the basolateral cell membrane. As in our patient, it has been reported in the literature that subjects with benign pancreatic hyperenzymemia have also a Gilbert's syndrome. The relationship is still unclear. A proper diagnosis of Gullo's syndrome is important to aid clinician in the management of this children and to reassure family about the benignancy of the disease. The recognition of this syndrome may also prevent multiple and complex diagnostic evaluations or hospital admissions for children.