Macroamylasemia — a rare variant of hyperamylasemia in pediatric practice

Macroamylasemia is a rare disorder characterized by the formation of an amylase-globulin complex that is too large to be easily cleared by the kidneys, resulting in elevated serum amylase levels. It is a benign condition with no serious signs or symptoms and requires no treatment. This article presents a case of long-term asymptomatic hyperamylasemia in a 10-year-old child. The child was admitted to the gastroenterology department with complaints of abdominal pain. Since the age of 8, there have been unexplained increases in serum amylase to 235 U/L and pancreatic amylase to 63.5 U/L, without clinical manifestations of pancreatitis, with normal levels of urine amylase and coprological elastase. An examination was performed, during which pancreatic pathology was excluded. The ratio of amylase and creatinine clearances was 0.754%. This ratio turned out to be less than 1%, which is more likely to indicate macroamysalemia. After further examination, type 1 macroamylasemia was diagnosed, which was the cause of hyperamylasemia — a non-life-threatening biochemical anomaly that requires a detailed examination, broad differential diagnostics, but does not require treatment. However, macroamylasemia is a diagnostic challenge because it must be differentiated from other causes of hyperamylasemia to avoid unnecessary testing and treatment. Hyperamylasemia is one of the main diagnostic criteria for pancreatitis, requiring extensive additional testing and treatment, often in a hospital setting. Therefore, it is important that physicians can recognize and diagnose macroamylasemia at an early stage to avoid unnecessary diagnostic and therapeutic measures. In this regard, we hope that the clinical example we have provided will be interesting and useful for physicians of various specialties.