Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis
Open accessAbstract
Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we reevaluated the clinical and the biochemical characteristics of all reported cases of FHBL2. One hundred fifteen FHBL2 individuals carrying 13 different mutations in the ANGPTL3 gene (14 homozygotes, 8 compound heterozygotes, and 93 heterozygotes) and 402 controls were considered. Carriers of two mutant alleles had undetectable plasma levels of ANGPTL3 protein, whereas heterozygotes showed a reduction ranging from 34% to 88%, according to genotype. Compared with controls, homozygotes as well as heterozygotes showed a significant reduction of all plasma lipoproteins, while no difference in lipoprotein(a) [Lp(a)] levels was detected between groups. The prevalence of fatty liver was not different in FHBL2 subjects compared with controls. Notably, diabetes mellitus and cardiovascular disease were absent among homozygotes. FHBL2 trait is inherited in a codominant manner, and the lipid-lowering effect of two ANGPTL3 mutant alleles was more than four times larger than that of one mutant allele. No changes in Lp(a) were detected in FHBL2. Furthermore, our analysis confirmed that FHBL2 is not associated with adverse clinical sequelae. The possibility that FHBL2 confers lower risk of diabetes and cardiovascular disease warrants more detailed investigation.
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The AGRE subjects with HABL might have familial combined hypolipidemia, which is primarily secondary to loss-of-function mutations in the genes of the angiopoietin-like proteins, including ANGPTL3.
“The AGRE subjects with HABL might have familial combined hypolipidemia, which is primarily secondary to loss-of-function mutations in the genes of the angiopoietin-like proteins, including ANGPTL3 [90–92]”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [92]
The Data sources and study selection section describes familial combined hypolipidemia (FHBL2) as caused by ANGPTL3 mutations, and the Discussion identifies loss-of-function ANGPTL3 mutations as causing FHBL2. The paper does not establish that mutations in multiple angiopoietin-like protein genes are primarily responsible. It also does not assess the AGRE subjects; their possible diagnosis is the citing authors’ conjecture. (LLM, conf=0.86)
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- Authors
- Minicocci, I., Santini, S., Cantisani, V., Stitziel, N., Kathiresan, S., Arroyo, J. A., Martí, G., Pisciotta, L., Noto, D., Cefalù, A. B., Maranghi, M., Labbadia, G., Pigna, G., Pannozzo, F., Ceci, F., Ciociola, E., Bertolini, S., Calandra, S., Tarugi, P., Averna, M., & Arca, M.
- Affiliations
- Sapienza University of Rome (IT)
- Washington University in St. Louis (US)
- Harvard University (US)
- Hospital de Sant Pau (ES)
- Hospital Sant Joan de Déu Barcelona (ES)
- University of Genoa (IT)
- University of Palermo (IT)
- Ospedale Santa Maria Goretti (IT)
- University of Modena and Reggio Emilia (IT)
- Corresponding author
- Arca, Marcello
- ORCID
- Venue
- Journal of Lipid Research
- Publisher
- Elsevier BV
- Published
- 2013-12
- Volume
- 54
- Issue
- 12
- Pages
- 3481-3490
- ISSN
- 0022-2275 (ISSN-L)
- PMC
- PMC3826694
- OpenAlex
- W2103334195
- Cited by
- 97
- References
- 39
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 8 · 2023: 8 · 2022: 14 · 2021: 14 · 2020: 9 · 2019: 5 · 2018: 4 · 2017: 10 · 2016: 3 · 2015: 6 · 2014: 4
- FWCI
- 2.95
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Lipid Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Nova Science Publishers (Nova Science Publishers, Inc.) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- Funders
- Massachusetts General Hospital
- Donovan Family Foundation
- Fondation Leducq
- Sapienza Università di Roma
- Università degli Studi di Genova
- Università degli Studi di Palermo
- National Institutes of Health
- National Heart, Lung, and Blood Institute (K08HL114642, R01HL107816)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Paraoxonase enzyme and polymorphisms
- Keywords
- ANGPTL3, loss-of-function mutations, plasma lipids, lipoprotein metabolism, lipoprotein(a), hepatic steatosis, diabetes mellitus, cardiovascular disease, codominant inheritance, genotype-phenotype correlation, hypolipidemic effect
- MeSH terms
- Angiopoietin-like Proteins, Angiopoietin-Like Protein 3, Adolescent, Adult, Aged, Aged, 80 and over, Cardiovascular Diseases, Child, Fatty Liver, Gene Expression Regulation, Heterozygote, Homozygote, Humans, Hypobetalipoproteinemias, Lipids, Middle Aged, Mutation, Cohort Studies, Lipoprotein(a), Angiopoietins, Young Adult
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