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Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia
- Publication Year :
- 2017
-
Abstract
- Background The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. Objective A direct comparison of lipid phenotypes of these 2 conditions has never been carried out. In addition, although an increased prevalence of liver steatosis in FHBL1 has been consistently reported, the hepatic consequences of FHBL2 are not well established. Methods We investigated 350 subjects, 67 heterozygous carriers of APOB mutations, 63 carriers of the p.S17* mutation in ANGPTL3 (57 heterozygotes and 6 homozygotes), and 220 noncarrier normolipemic controls. Prevalence and degree of hepatic steatosis were assessed by ultrasonography. Results A steady decrease of low-density lipoprotein cholesterol levels were observed from heterozygous to homozygous FHBL2 and to FHBL1 individuals, with the lowest levels in heterozygous FHBL1 carrying truncating mutations in exons 1 to 25 of APOB (P for trend
- Subjects :
- 0301 basic medicine
Male
Hepatic steatosis
Settore MED/09 - Medicina Interna
Apolipoprotein B
Endocrinology, Diabetes and Metabolism
030204 cardiovascular system & hematology
medicine.disease_cause
ANGPTL3 gene
APOB gene
Familial combined hypolipidemia
Familial hypobetalipoproteinemia
HDL cholesterol
Low cholesterol syndromes
Hypobetalipoproteinemias
Exon
0302 clinical medicine
ANGPTL3
Nutrition and Dietetic
Genetics
Mutation
Nutrition and Dietetics
biology
hepatic steatosis
Homozygote
Middle Aged
Phenotype
lipids (amino acids, peptides, and proteins)
Female
Cardiology and Cardiovascular Medicine
familial combined hypolipidemia
familial hypobetalipoproteinemia
low cholesterol syndromes
medicine.medical_specialty
Heterozygote
Low cholesterol syndrome
Hepatic steatosi
03 medical and health sciences
Internal medicine
Internal Medicine
medicine
Humans
Gene
Aged
Angiopoietin-Like Protein 3
Apolipoproteins B
business.industry
Heterozygote advantage
medicine.disease
030104 developmental biology
Endocrinology
Angiopoietin-like Proteins
biology.protein
Steatosis
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....f65118e5cadfdcef2c8180b96c16d093