A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)
| Autor: | Amedeo Lonardo, Stefano Bertolini, G. Ballarini, Patrizia Tarugi, Sebastiano Calandra, Laura Erspamer, Emilio Tondelli |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty Heterozygote Apolipoprotein B Lipoproteins Truncated apo B Gene mutation Hypobetalipoproteinemias Liver disease Fatty liver disease Internal medicine medicine Humans Hypocholesterolemia Steatohepatitis Ultrasonography Apolipoproteins B Hepatology biology medicine.diagnostic_test Fatty liver Alcohol CT scanning Middle Aged medicine.disease Pedigree Fatty Liver Endocrinology Apolipoproteins biology.protein lipids (amino acids peptides and proteins) Hypobetalipoproteinemia Liver function tests Lipoprotein |
| Zdroj: | Journal of hepatology. 33(3) |
| ISSN: | 0168-8278 |
| Popis: | Background/Aims: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by reduced plasma levels of low-density lipoproteins. It can be caused by mutations in the gene encoding apolipoprotein B-100 (apo B), leading to the formation of truncated apo Bs which have a reduced capacity to export lipids from the hepatocytes as lipoprotein constituents. Case reports suggest the occurrence of liver disease in FHBL, but there are no studies of liver involvement in FHBL with defined apo B gene mutations. The presence of fatty liver disease was investigated in a large FHBL kindred. 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 ultrasono-graphic 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. |
| Databáze: | OpenAIRE |
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