Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins. Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation.
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Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
J Atheroscler Thromb
July 2024
Cardiovascular Center, Osaka Medical and Pharmaceutical University.
Familial hypobetalipoproteinemia (FHBL) 1 is a rare genetic disorder with an autosomal codominant mode of inheritance and is caused by defects in the apolipoprotein (apo) B (APOB) gene that disable lipoprotein formation. ApoB proteins are required for the formation of very low-density lipoproteins (VLDLs), chylomicrons, and their metabolites. VLDLs transport cholesterol and triglycerides from the liver to the peripheral tissues, whereas chylomicrons transport absorbed lipids and fat-soluble vitamins from the intestine.
View Article and Find Full Text PDFThe first Japanese case with familial combined hypolipidemia without any complications caused by loss-of function variants in : Case report.
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April 2024
Department of Cardiology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
Familial combined hypolipidemia, previously known as Familial hypobetalipoproteinemia 2 (FHBL2) is considered as an extremely rare recessive disease. Here, we present the case of familial combined hypolipidemia with homozygous loss-of function (LOF) variants in angiopoietin-like protein 3 () ((NM_014495.4) c.
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A Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB.
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Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan.
We herein report the first family of Japanese individuals with familial hypobetalipoproteinemia caused by the c.1468C>T mutation in apolipoprotein B (APOB). A 13-year-old boy with extremely low levels of low-density lipoprotein (LDL) cholesterol (24 mg/dL) was referred to our hospital.
View Article and Find Full Text PDFCarotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.
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Article Synopsis
- Familial hypobetalipoproteinemias (FHBL) are rare genetic disorders linked to lipid malabsorption, specifically abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in MTTP and SAR1B genes.* -
- This study aimed to assess the absorption and levels of carotenoids in patients with these conditions, revealing significant deficiencies in carotenoid levels compared to healthy controls; in lab models, carotenoid absorption was notably reduced.* -
- The findings suggest that despite treatment with fat-soluble vitamins, there's a continued loss in visual function, indicating that carotenoid supplementation could be crucial, and further research is
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