A rare case of familial chylomicronemia in infancy due to homozygous LMF1 variant

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Familial chylomicronemia syndrome (FCS) (n=1). Intervention: Strict dietary fat restriction supplemented with medium-chain triglyceride (MCT) oil. Primary outcome: Serum triglyceride levels.

Q: What does this research mean for the field?

Homozygous variants in the LMF1 gene can cause familial chylomicronemia syndrome presenting in early infancy, which can be managed effectively with prompt dietary intervention. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Padala Ravi Kumar; Bandana Dash; Deepak Kumar Dash; Debasish Patro; Pradosh Kumar Sahu; Ankeet Biswas

doi:10.1210/jcemcr/luag164

June 3, 2026JCEM Case ReportsOpen Access

A rare case of familial chylomicronemia in infancy due to homozygous LMF1 variant

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Key result

Dietary fat restriction with MCT oil reduces triglycerides ~97% in an infant with FCS.

n=1

Why the study?

Familial chylomicronemia syndrome due to homozygous LMF1 variants is an exceedingly rare cause, especially presenting in infancy, with limited reported cases.

Does strict dietary fat restriction with MCT supplementation reduce serum triglyceride levels in an infant with familial chylomicronemia syndrome due to a homozygous LMF1 variant?

Key Points

To describe the clinical presentation, genetic identification, and dietary management of familial chylomicronemia syndrome caused by an LMF1 variant in an infant.
Clinical evaluation and targeted genetic testing were conducted in a 5-month-old male infant following the incidental discovery of severe lipemic serum.
At 6 months of age, a weaning diet restricting fat to 11% of total daily calories and supplemented with medium-chain triglyceride oil was initiated, with clinical follow-up through 18 months of age.
Initial evaluation identified severe hypertriglyceridemia with serum triglycerides of 8014 mg/dL (207.2 mmol/L), caused by a homozygous nonsense variant (p.Arg233Ter) in exon 5 of the LMF1 gene.
Following dietary fat restriction and medium-chain triglyceride supplementation, fasting serum triglycerides decreased to 307 mg/dL (3.5 mmol/L) at 10 months and 225 mg/dL (2.54 mmol/L) at 18 months of age.
The infant maintained age-appropriate growth milestones and had no clinical signs or episodes of pancreatitis throughout follow-up.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

Does strict dietary fat restriction with MCT supplementation reduce serum triglyceride levels in an infant with familial chylomicronemia syndrome due to a homozygous LMF1 variant?

P

Population

A 5-month-old male infant with familial chylomicronemia syndrome due to a homozygous LMF1 variant, followed for 13 months on dietary therapy.

I

Intervention

Strict dietary fat restriction supplemented with medium-chain triglyceride (MCT) oil.

O

Outcome

Reduction in serum triglyceride levels.surrogate

This case highlights that early detection and strict dietary fat restriction with MCT supplementation can safely and effectively control severe hypertriglyceridemia in infants with familial chylomicronemia syndrome.

Key expert perspectives

Captured external expert commentary on this paper, strongest first. Original sources are linked where available.

PR Padala Ravi KumarClinician-researcher, case report first author

“To the best of our knowledge, this is the first reported case of FCS due to a homozygous LMF1 variant presenting in infancy.”

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Implication

May support early dietary management in LMF1-related infantile FCS; hypothesis-generating and leaves open need for prospective data.

Abstract

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of triglyceride (TG) metabolism, with an estimated prevalence of 1 in 100 000 to 1 in 1 000 000. It typically presents in childhood or adolescence, while presentation in infancy is exceedingly rare. Loss-of-function variants in lipoprotein lipase gene account for 60-80% of FCS cases. Other causes of FCS include loss-of-function variants in glycosylphosphatidylinositol-anchored high-density lipoprotein–binding protein 1, apolipoprotein A-V, apolipoprotein C-II, and lipase maturation factor 1 (LMF1) genes. LMF1 variants are an exceedingly rare cause of FCS. We report a rare case of FCS presenting in a 5-month-old infant due to a homozygous variant in the LMF1 gene, detected incidentally. Early diagnosis and timely dietary intervention resulted in significant improvement in serum TG levels and prevented complications like pancreatitis. This case highlights a rare presentation of FCS due to a homozygous LMF1 variant presenting in infancy.

Discussion

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Published by JCEM Case Reports · CC BY

Cite This Study

Kumar et al. (2026) conducted a case report in Familial chylomicronemia syndrome (FCS) (n=1). Strict dietary fat restriction supplemented with medium-chain triglyceride (MCT) oil was evaluated on Serum triglyceride levels. Early dietary fat restriction with MCT supplementation markedly reduced serum triglyceride levels from 8014 mg/dL to 225 mg/dL and prevented pancreatitis in an infant with FCS.

synapsesocial.com/papers/6ac72a2936c8cd5d094bf1fe https://doi.org/10.1210/jcemcr/luag164

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A rare case of familial chylomicronemia in infancy due to homozygous LMF1 variant

Key Points

Study Design

Structured PICO

Key expert perspectives

Implication

Abstract

Discussion

Figures from the paper

Cite This Study

A rare case of familial chylomicronemia in infancy due to homozygous LMF1 variant

Key Points

Study Design

Structured PICO

Key expert perspectives

Implication

Abstract

Discussion

Figures from the paper

Cite This Study

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