Elevated serum cobalamin levels in childhood: a retrospective analysis

Area of Science:

• Pediatric Endocrinology
• Clinical Biochemistry
• Oncology

Background:

• Cobalamin (Cbl), a vital water-soluble vitamin, has well-documented deficiency implications.
• The clinical significance of elevated serum Cbl levels, especially in pediatric populations, remains poorly understood.
• This study addresses the diagnostic uncertainty surrounding high Cbl levels in children.

Purpose of the Study:

• To investigate clinical and laboratory findings in pediatric patients with excessively high serum Cbl levels.
• To identify potential underlying causes and clinical outcomes associated with elevated Cbl.
• To clarify the diagnostic value of high Cbl levels in pediatric cases.

Main Methods:

• Retrospective analysis of pediatric patients with serum Cbl > 1500 ng/mL.
• Data collected included demographics, Cbl treatment history, chronic disease status, laboratory results, and imaging findings.
• Evaluation conducted at Ankara Bilkent City Hospital from January to May 2024.

Main Results:

• 388 pediatric patients were analyzed; 45.4% had a history of Cbl treatment, showing significantly higher Cbl levels.
• Leukemia and tumors were the most common chronic diseases associated with high Cbl.
• While 81.3% were asymptomatic, five patients without prior diagnosis developed malignancies (rhabdomyosarcoma, AML, lymphomas, CML).
• Ultrasonographic abnormalities (steatosis, hepatosplenomegaly) were more frequent in patients with high Cbl.
• Chronic disease patients had higher Cbl levels and longer normalization periods.

Conclusions:

• Persistently elevated serum Cbl in children, even if asymptomatic, may indicate serious underlying conditions, including malignancies.
• Close monitoring and further investigation are crucial for pediatric patients with unexplained high Cbl levels.
• Avoidance of unnecessary Cbl supplementation is recommended to prevent misleading results and ensure accurate diagnosis.