A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One‐Year Follow‐Up on Lipid Profile and Growth Development

ABSTRACT

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease caused by a biallelic loss‐of‐function mutation in the lipoprotein lipase ( LPL ) gene or its cofactors. This case report describes the diagnosis, management, and one‐year follow‐up of an infant with FCS. The patient presented in early infancy with severe hypertriglyceridemia. Diagnosis was confirmed by genetic testing, which revealed a compound heterozygous mutation in the LPL gene. Management centered on a strict low‐fat diet with medium‐chain triglyceride (MCT) supplementation. Over a one‐year follow‐up period, significant improvements in triglyceride levels and catch‐up growth were observed, highlighting the critical importance of early diagnosis and dietary intervention.