Key result
In patients heterozygous for pathogenic LPL variants, triglyceride levels varied widely, with 67.0% of measurements showing mild-to-moderate and 18.2% showing severe hypertriglyceridemia.
Why the study?
Triglyceride levels in individuals with one copy of a pathogenic LPL gene variant are less familiar, with some assuming an intermediate phenotype between homozygotes and controls.
Observational (n=15)
Heterozygosity for pathogenic LPL variants confers susceptibility to a highly variable triglyceride phenotype, ranging from normal to severe hypertriglyceridemia, likely depending on secondary factors.
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Marked TG variability in LPL carriers cautions against variant-based predictions; leaves open secondary modifier effects.
Perera et al. (2022) conducted an observational in Heterozygosity for pathogenic LPL variants (n=15). Heterozygosity for pathogenic LPL variants was evaluated on Longitudinal triglyceride levels. In patients heterozygous for pathogenic LPL variants, triglyceride levels varied widely, with 67.0% of measurements showing mild-to-moderate and 18.2% showing severe hypertriglyceridemia.
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