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Friday, 1/8/2025 | 14:43 GMT+7

Rare enzyme condition leads to misdiagnosis in 7-year-old

A 7-year-old boy, initially misdiagnosed with acute pancreatitis and placed on a month-long fast, has been successfully treated at Bach Mai Hospital after doctors identified a rare enzyme condition.

While being treated for measles at a central hospital, the young boy experienced vomiting and abdominal pain. Tests revealed elevated amylase levels, leading to a diagnosis of acute pancreatitis despite a normal abdominal ultrasound. When his condition didn't improve, and amylase levels rose to 27 times the normal limit, his family sought help at the Pediatrics Center of Bach Mai Hospital.

Doctors at Bach Mai Hospital noted a crucial discrepancy: while the boy's amylase levels were extremely high, his lipase levels (another pancreatic enzyme) were normal. In true cases of acute pancreatitis, both levels typically rise together. A CT scan confirmed a healthy pancreas, and while the boy's vomiting and pain had subsided, he had lost nearly 2 kg due to the prolonged fast.

"Given the week-long duration, significantly elevated amylase yet normal lipase and pancreatic imaging, and especially the absence of abdominal pain, we ruled out acute pancreatitis," said Dr. Mai Thanh Cong of the Pediatrics Center. The question became: what was causing such unusually high amylase levels?

Suspecting macroamylasemia, a rare and benign condition, doctors began investigating. In macroamylasemia, amylase binds to other proteins, forming large complexes too large to be filtered by the kidneys. This leads to amylase accumulation in the blood and elevated test results.

A doctor draws blood for testing. Photo: Quynh Tran

A doctor draws blood for testing. Photo: Quynh Tran

To confirm their suspicion, doctors used the Amylase-Creatinine Clearance Ratio (ACCR) test. The boy's ACCR was 0.05%, far below the normal range of 3-5%, definitively diagnosing macroamylasemia. Dr. Cong explained that this result solved the puzzle, allowing the boy to discontinue unnecessary treatment.

Doctors advise considering macroamylasemia when elevated amylase levels are present without clear symptoms like abdominal pain. Accurately diagnosing this benign condition can prevent unnecessary medical interventions and reduce stress for both the child and family.

Le Nga

By VnExpress: https://vnexpress.net/loai-enzyme-bi-an-trong-mau-khien-tre-bi-chan-doan-nham-benh-4921552.html
Tags: acute pancreatitis misdiagnosis Hanoi

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