Two rare cases of benign hyperlipasemia in children

Abstract

Gullo’s syndrome is a newly identified condition characterized by a chronic elevation of pancreatic amylase and/or lipase in the absence of pancreatic disease. Until now, only one case of benign isolated hyperlipasemia in children has been recorded. We describe two children with benign and not familial increase of serum lipase. Case 1: a six year old girl presented with occasional discovery of serum lipase elevation. Medical history was silent for pancreatic hyperenzymemia. The screening for possible causes for elevated lipase (genetic, autoimmune and infectious diseases) was normal. The serum lipase increased three fold over the upper limit (193 U/L; reference range 0-60 U/L), with daily fluctuation of values. Both ultrasound scan and magnetic resonance imaging were normal. The genetic mutation associated with chronic pancreatitis was negative. We followed up this patient for two years with blood tests every six months and she did not show any signs or symptoms of pancreatic disease, except for the high level of lipase serum. Case 2: an eight year old girl complained of nausea, vomiting and severe abdominal pain in the epigastric region after eating for the last two weeks. Full blood count, electrolytes, C-reactive protein, liver and renal function were normal. Serum lipase was 96 U/L (reference range 0-60 U/L). The screening for the possible causes of pancreatic disease was negative. Endoscopy of the upper gastrointestinal tract, ultrasound, computed tomography scan and magnetic resonance imaging were normal. One year after the presentation of the symptoms, the patient became asymptomatic although the level of serum lipase continued to be high.

Keywords: Amylase; Lipase; Pancreatic hyperenzymemia; Gullo’s syndrome; Benign hyperlipasemia

Core tip: Benign hyperlipasemia is a rare condition in children. The identification of this condition could be very useful for pediatricians in the diagnosis and management of hyperlipasemia. The cause of pancreatic hyperenzymemia seems to be related to a defected pathway from the trans-Golgi network to basolateral cell membrane. It has been hypothesized that a defect in this pathway could be responsible for the increased passage of enzymes into circulation. “Gullo’s syndrome” remains a diagnosis of exclusion and clinicians still need to be vigilant of the wide-ranging conditions that can manifest initially with elevations in lipase/amylase.