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Two rare cases of benign hyperlipasemia in children
Elena Lionetti1, Ruggiero Francavilla1, Salvatore Leonardi1
1Elena Lionetti, Salvatore Leonardi, Stefania Tomarchio, Alessia Gennaro, Chiara Franzonello, Mario La Rosa, Department of Medical and Pediatric Science, University of Catania, 95123 Catania, Italy.
Insights
Gullo's syndrome, a condition with elevated lipase without pancreatic disease, is described in two children. This benign, non-familial hyperlipasemia highlights a rare pediatric condition.
Area of Science:
- Pediatric Gastroenterology
- Biochemistry
- Endocrinology
Background:
- Gullo's syndrome is a recently identified condition characterized by chronic elevation of pancreatic enzymes, specifically amylase and/or lipase, without evidence of pancreatic disease.
- Previously, only one case of benign isolated hyperlipasemia in pediatric patients had been documented, making further case studies crucial for understanding this rare syndrome.
Observation:
- This report details two pediatric cases presenting with benign, non-familial elevations in serum lipase.
- Case 1 involved a 6-year-old girl with incidentally discovered, fluctuating hyperlipasemia (193 U/L) over two years, with normal pancreatic imaging and negative genetic testing for pancreatitis.
- Case 2 described an 8-year-old girl with symptoms of nausea, vomiting, and abdominal pain, who exhibited elevated serum lipase (96 U/L) and normal pancreatic diagnostics, eventually becoming asymptomatic despite persistent high lipase levels.
Findings:
- Both pediatric patients exhibited elevated serum lipase levels significantly above the normal range (0-60 U/L).
- Extensive diagnostic workups, including genetic screening, autoimmune markers, infectious disease panels, and various imaging techniques (ultrasound, MRI, CT), ruled out underlying pancreatic diseases or other common causes for hyperlipasemia.
- The observed hyperlipasemia in both cases was benign, non-familial, and did not correlate with clinical signs of pancreatic pathology, suggesting a distinct clinical entity.
Implications:
- These cases expand the known spectrum of Gullo's syndrome in pediatric populations, emphasizing its benign and non-familial nature.
- The findings suggest that persistent, isolated hyperlipasemia in children, even with transient symptoms, may not indicate significant pancreatic disease and warrants careful, long-term observation.
- Further research is needed to elucidate the pathophysiology and long-term prognosis of Gullo's syndrome to establish definitive diagnostic and management guidelines.
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.
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