ArticleMolecular genetics and metabolism reports2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- A multi-society Delphi consensus statement on the diagnosis of familial chylomicronemia syndrome.Archives of endocrinology and metabolism · 2025Article
- Case Report: Severe hypertriglyceridaemia and multivessel coronary artery disease - management and plaque characteristics.Frontiers in cardiovascular medicine · 2025Article
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Authors and funding
16 authors.
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Abstract
Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we determined the frequency and variation spectrum of genes involved in the triglyceride metabolism in a series of Brazilian patients with severe HTG. A total of 212 patients with very high HTG, defined with fasting triglycerides (TG) ≥ 880 mg/ dL, that underwent a multi-gene panel testing were included in this research. Germline deleterious variants (i.e. Pathogenic/Likely Pathogenic (P/LP) variants) were identified in 28 out of 212 patients, reflecting an overall diagnostic yield of 13% in our cohort. Variants of unknown significance (VUS) were identified in 87 patients, and represent 80% of detected variants in this dataset. We confirm the
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