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Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom

1 Jan 2025

Abstract excerpt

Purpose: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom. Methods: Data were anonymously collated from 2 genetic testing laboratories providing national genetic diagnosis services for severe hypertriglyceridemia in the United Kingdom. Results: , were predominantly observed in...

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PMID: 40919303
DOI: 10.1016/j.gimo.2025.103445

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