Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia
Abstract
Objective— Individuals with familial hypobetalipoproteinemia (FHBL) have been reported to be prone to fatty liver disease (FLD). Conversely, the profound reduction of low-density lipoprotein (LDL) cholesterol in this disorder might decrease cardiovascular risk. In the present study, we assessed hepatic steatosis as well as noninvasive surrogate markers for cardiovascular disease (CVD) in subjects with FHBL and in matched controls. Methods and Results— Hepatic steatosis was assessed by abdominal ultrasonography. Carotid intima-media thickness (IMT) and distal common carotid arterial wall stiffness as surrogate markers for CVD risk were measured using high-resolution B-mode ultrasonography. Whereas transaminase levels were only modestly elevated, both prevalence (54% versus 29%; P =0.01) and severity of steatosis were significantly higher in FHBL individuals compared with controls. Despite similar IMT measurements, arterial stiffness was significantly lower in FHBL ( P =0.04) compared with controls. Additionally, the increase in arterial stiffness as seen in the presence of traditional risk factors was attenuated, suggesting that very low levels of apoB-containing lipoproteins can negate the adverse effects of other risk factors on the vasculature. Conclusions— FHBL is characterized by an increased prevalence and severity of fatty liver disease. The observed decreased level of arterial wall stiffness, most pronounced in the presence of nonlipid risk factors, is indicative of cardiovascular protection in these subjects.
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The trend toward significance with ApoB and BMI is consistent with familial hypobetalipoproteinemia presenting with low BMI.
“However, we detected only a trend toward significance with ApoB and BMI, which is consistent with familial hypobetalipoproteinemia presenting with low BMI [89].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [89]
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- Authors
- Sankatsing, R. R., Fouchier, S. W., de Haan, S., Hutten, B. A., de Groot, E., Kastelein, J. J. P., & Stroes, E. S. G.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- From the Departments of Vascular Medicine (R.R.S., S.W.F., S.H., E.G., J.J.P.K., E.S.G.S.) and Clinical Epidemiology and Biostatistics (B.H.), Academic Medical Center, Amsterdam, the Netherlands.
- Venue
- Arteriosclerosis, Thrombosis, and Vascular Biology
- Published
- 2005-09
- Volume
- 25
- Issue
- 9
- Pages
- 1979-1984
- ISSN
- 1079-5642 (ISSN-L)
- 1524-4636
- OpenAlex
- W2110975556
- Cited by
- 106
- References
- 56
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 5 · 2023: 2 · 2022: 4 · 2021: 6 · 2020: 2 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 4 · 2015: 8 · 2014: 8 · 2013: 13 · 2012: 8
- FWCI
- 3.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Arteriosclerosis Thrombosis and Vascular Biology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Epidemiology › Liver Disease Diagnosis and Treatment
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- familial hypobetalipoproteinemia, hepatic steatosis, cardiovascular risk, carotid intima-media thickness, arterial stiffness, LDL cholesterol, apolipoprotein B, transaminases, cardioprotection
- MeSH terms
- Adult, Apolipoproteins B, Carotid Artery Diseases, Fatty Liver, Female, Humans, Hypobetalipoproteinemias, Cholesterol, LDL, Male, Middle Aged, Risk Factors, Severity of Illness Index, Ultrasonography, Prevalence
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