.png){kind=icon}
.png){kind=icon}
Return
Vitamin K1 as a screening marker to facilitate the genetic diagnosis of Class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysis
.png){kind=icon}
OA
AI
M
S
M
T
S
H
J
S
S
T
H
DOI：10.1016/j.jacl.2026.06.013.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
• While low levels of LDL-cholesterol (LDL-C) can be atheroprotective, homozygous Class I familial hypobetalipoproteinemia (Ho-Class I FHBL) and heterozygous FHBL1 (HeFHBL1) have serious complications due to genetic defects in chylomicron/VLDL secretion. However, Ho-Class I FHBL with milder phenotypes and HeFHBL1 are often underdiagnosed due to overlapping lipid profiles with common hypolipidemia. Additional screening markers are warranted. • Among hypolipidemia with LDL-C levels below 30 mg/dL, the plasma vitamin K1 level is the strongest independent predictor of Class I FHBL. • The levels of plasma vitamin K1 in HeFHBL1 were significantly reduced by approximately 50% compared to controls, sensitively reflecting the half-normal lipoprotein secretion due to APOB heterozygosity. • Systematic review analyses revealed that vitamin K1 is the only fat-soluble vitamin that is decreased not only in Ho-Class I FHBL but also in HeFHBL1, further supporting the unique value of vitamin K1 as a sensitive marker of fat malabsorption. • Screening by LDL-C and vitamin K1 may facilitate the genetic diagnosis of HeFHBL1 and Ho-Class I FHBL, enabling early management of their complications, such as fat malabsorption, fat-soluble vitamin deficiency, and steatotic liver diseases.
Keywords:
Hypobetalipoproteinemia
Apolipoprotein B
Vitamin K1
Fat malabsorption
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
IF:
4.6
Papers:
2.5K
Citations:
4.3K
Organization
Cited Papers