Abstract | BACKGROUND/AIMS: METHODS: Plasma lipoprotein and apolipoprotein analysis, liver function tests, and apo B gene sequence were performed in 16 members of a FHBL kindred. The presence of fatty liver was assessed by ultrasound and computed tomography scanning. RESULTS: The proband, a non-obese heavy drinker male with hypobetalipoproteinemia, had steatohepatitis with fibrosis. He was heterozygous for a novel non-sense mutation of apo B gene producing a truncated apo B of 2745 amino acids (designated apo B-54.5, having half the size of normal apo B-100). Seven other members of his kindred carried apo B-54.5. Although all of them were hypolipidemic, their lipid levels showed a large inter-individual variability not accounted for by polymorphisms of genes involved in apo B metabolism. Four carriers (two heavy drinkers and two teetotallers), irrespective of their plasma lipid levels, had ultrasonographic evidence of fatty liver. In the other four carriers no evidence of fatty liver was found. CONCLUSIONS: In this kindred apo B-54.5 predisposes to fatty liver, which however may require some additional factors to become clinically relevant.
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Authors | P Tarugi, A Lonardo, G Ballarini, L Erspamer, E Tondelli, S Bertolini, S Calandra |
Journal | Journal of hepatology
(J Hepatol)
Vol. 33
Issue 3
Pg. 361-70
(Sep 2000)
ISSN: 0168-8278 [Print] Netherlands |
PMID | 11019990
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Apolipoproteins
- Apolipoproteins B
- Lipoproteins
- apolipoprotein B-54.5
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Topics |
- Apolipoproteins
(blood)
- Apolipoproteins B
(genetics)
- Fatty Liver
(etiology)
- Heterozygote
- Humans
- Hypobetalipoproteinemias
(blood, complications, genetics)
- Lipoproteins
(blood)
- Male
- Middle Aged
- Pedigree
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