ArticleJCEM case reports2026
A rare case of familial chylomicronemia in infancy due to homozygous
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 (
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