Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novelGPIHBP1mutation

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Population

5 subjects with childhood-onset chylomicronaemia syndrome presenting with severe hypertriglyceridaemia and…

Design

Case_series

Authors

Discussion

May support GPIHBP1 testing in unexplained chylomicronaemia; leaves open pathogenicity confirmation and clinical adoption.

Population

5 subjects with childhood-onset chylomicronaemia syndrome presenting with severe hypertriglyceridaemia and reduced LPL activity and mass

Intervention

Genetic analysis of LPL and GPIHBP1 genes

Outcome

Identification of primary genetic deficiencysurrogate

Identifies a novel GPIHBP1 mutation as a cause of childhood-onset chylomicronaemia, expanding the genetic understanding of the disease.

Coca‐Prieto et al. (2011) studied this question.

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