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Article

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Feb 2018

Caddeo A, Mancina R M, Pirazzi C, Russo C, Sasidharan K, Sandstedt J, Maurotti S, Montalcini T, Pujia A, Leren T P, Romeo S, Pingitore P

Abstract excerpt

BACKGROUND AND AIMS: Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms. METHODS AND RESULTS: A total of 3 individuals with severe...

Read the complete abstract on PubMed

Topics

Adult
Aged
Female
Genetic Predisposition to Disease
HEK293 Cells
Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Homozygote

Humans

Hyperlipoproteinemia Type I

Hypertriglyceridemia

Lipids

Lipoprotein Lipase

Male

Middle Aged

Mutation

Pancreatitis

Phenotype

Recurrence

Source

Identifiers

PMID: 29288010
DOI: 10.1016/j.numecd.2017.11.003

Genes

LPL
APOA5
APOC2
GPIHBP1
LMF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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