Key result
Low-fat diet with MCT supplementation lowers severe hypertriglyceridemia ~98% in infant with FCS.
Why the study?
Does a strict low-fat diet with MCT supplementation reduce triglyceride levels and support growth in an infant with familial chylomicronemia syndrome?
Case Report (n=1)
No
Does a strict low-fat diet with MCT supplementation reduce triglyceride levels and support growth in an infant with familial chylomicronemia syndrome?
A strict low-fat diet with MCT supplementation is effective for managing severe hypertriglyceridemia and ensuring normal growth in infantile-onset familial chylomicronemia syndrome.
Supports MCT-supplemented low-fat diet in infantile FCS; single case report leaves open generalizability and need for prospective trials.
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.
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Liu et al. (2026) conducted a case report in Familial chylomicronemia syndrome (FCS) (n=1). Strict low-fat diet with medium-chain triglyceride (MCT) supplementation was evaluated on Triglyceride levels. A strict low-fat diet with medium-chain triglyceride supplementation successfully reduced triglyceride levels from 337.72 mmol/L to 7.67 mmol/L and supported normal growth in an infant with familial chylomicronemia syndrome over one year.
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