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

Authors

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

Published in

JCEM case reports. Volume 4. Issue 11. Pages luag164. Epub Oct 05, 2026.

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.

PMID:
42831121
Bibliographic data and abstract were imported from PubMed on 05 Oct 2026.

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