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Etiology and emerging treatments for familial chylomicronemia syndrome.
- Source :
-
Expert review of endocrinology & metabolism [Expert Rev Endocrinol Metab] 2024 Jul; Vol. 19 (4), pp. 299-306. Date of Electronic Publication: 2024 Jun 12. - Publication Year :
- 2024
-
Abstract
- Introduction: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive condition. Effective treatment is important as patients are at risk for severe and potentially fatal acute pancreatitis. We review recent developments in pharmacologic treatment for FCS, namely biological inhibitors of apolipoprotein (apo) C-III and angiopoietin-like protein 3 (ANGPTL3).<br />Areas Covered: FCS follows a biallelic inheritance pattern in which an individual inherits two pathogenic loss-of-function alleles of one of the five causal genes - LPL (in 60-80% of patients), GPIHBP1 , APOA5 , APOC2 , and LMF1 - leading to the absence of lipolytic activity. Patients present from childhood with severely elevated triglyceride (TG) levels >10 mmol/L. Most patients with severe hypertriglyceridemia do not have FCS. A strict low-fat diet is the current first-line treatment, and existing lipid-lowering therapies are minimally effective in FCS. Apo C-III inhibitors are emerging TG-lowering therapies shown to be efficacious and safe in clinical trials. ANGPTL3 inhibitors, another class of emerging TG-lowering therapies, have been found to require at least partial lipoprotein lipase activity to lower plasma TG in clinical trials. ANGPTL3 inhibitors reduce plasma TG in patients with multifactorial chylomicronemia but not in patients with FCS who completely lack lipoprotein lipase activity.<br />Expert Opinion: Apo C-III inhibitors currently in development are promising treatments for FCS.
- Subjects :
- Humans
Apolipoprotein C-III genetics
Apolipoprotein C-III antagonists & inhibitors
Hypolipidemic Agents therapeutic use
Lipoprotein Lipase genetics
Angiopoietin-like Proteins antagonists & inhibitors
Angiopoietin-like Proteins genetics
Diet, Fat-Restricted
Receptors, Lipoprotein
Hyperlipoproteinemia Type I genetics
Hyperlipoproteinemia Type I drug therapy
Hyperlipoproteinemia Type I therapy
Angiopoietin-Like Protein 3
Subjects
Details
- Language :
- English
- ISSN :
- 1744-8417
- Volume :
- 19
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Expert review of endocrinology & metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 38866702
- Full Text :
- https://doi.org/10.1080/17446651.2024.2365787