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Article

A Case of Familial Chylomicronemia Syndrome Caused by a Novel Homozygous GPIHBP1 Mutation Successfully Treated with the Selective PPARα Modulator Pemafibrate.

Journal of atherosclerosis and thrombosis - 1 Sept 2026

Otsuki Tomoko, Chung Yumi, Kawachi Yusuke, Komuku Shiho, Yamanishi Masayuki, Takano Toru, Yamaguchi Atsuhiro, Hanada Hiroyuki, Masuda Daisaku, Miyashita Kazuya, Yamashita Shizuya

Abstract excerpt

AIM: Familial chylomicronemia syndrome (FCS) is a rare disorder characterized by the accumulation of chylomicrons in the circulation due to genetic defects or autoantibodies affecting lipoprotein lipase (LPL), the key enzyme responsible for the metabolism of chylomicrons and very-low-density lipoproteins (VLDL), or its associated proteins, including apolipoprotein (apo) C-II, apoA-V,...

Read the complete abstract on PubMed

Topics

Female
Humans
Middle Aged
Butyrates
Homozygote
Hyperlipoproteinemia Type I

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

Mutation

PPAR alpha

Receptors, Lipoprotein

Benzoxazoles

Source

Open in PubMed Open full text

Identifiers

PMID: 42309774
DOI: 10.5551/jat.66218
PMCID: PMC13547147

Genes

GPIHBP1
LPL
TG
LMF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A Case of Familial Chylomicronemia Syndrome Caused by a Novel Homozygous GPIHBP1 Mutation Successfully Treated with the Selective PPARα Modulator Pemafibrate.PMID 42309774Read ↗

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