The early challenges of familial chylomicronemia syndrome

We conducted a retrospective analysis of the diagnosis, treatment, and one-year follow-up of an infant with hypertriglyceridemia. Genetic analysis revealed a compound heterozygous mutation in the LPL gene, confirming the diagnosis of familial chylomicronemia syndrome. The treatment was a low-fat diet, and the triglyceride levels decreased rapidly. After a one-year follow-up, the triglyceride levels did not decrease to the normal range, but the growth and development were completely normal, and no complications such as pancreatitis occurred.