Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia View Full Text


Ontology type: schema:Chapter      Open Access: True


Chapter Info

DATE

2015-03-13

AUTHORS

Masa-aki Kawashiri , Hayato Tada , Marowa Hashimoto , Matsuo Taniyama , Takamitsu Nakano , Katsuyuki Nakajima , Takeshi Inoue , Mika Mori , Chiaki Nakanishi , Tetsuo Konno , Kenshi Hayashi , Atsushi Nohara , Akihiro Inazu , Junji Koizumi , Hirotaka Ishihara , Junji Kobayashi , Tsutomu Hirano , Hiroshi Mabuchi , Masakazu Yamagishi

ABSTRACT

Background: Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare inherited forms of hypolipidemia. Their differential diagnosis is important for predicting of the prognosis and selecting appropriate therapy.Materials and Methods: Genetic analysis was performed in two patients with primary hypocholesterolemia born from consanguineous parents. The oral fat tolerance test (OFTT) was performed in one patient with FHBL (apoB-87.77) and one with ABL as well as in four normal control subjects. After overnight fasting, blood samples were drawn. Serum lipoprotein and remnant-like particle (RLP) fractions were determined by HPLC analysis.Results: Both patients with homozygous FHBL were asymptomatic probably because of preserved levels of fat-soluble vitamins, especially vitamin E. The patients with FHBL were homozygous because of novel apoB-83.52 and apoB-87.77 mutations, and although one of them (apoB-87.77) had fatty liver disease, microscopic findings suggesting nonalcoholic steatohepatitis were absent. Fasting apoB-48 and RLP-triglyceride levels in the patient with homozygous FHBL, which were similar to those in normal control subjects, increased after OFTT both in normal control subjects and the patient with FHBL but not in the patient with ABL, suggesting that the fat load administered was absorbed only in the patient with FHBL.Conclusion: Although lipid levels in the patients with homozygous FHBL and ABL were comparable, fasting, postoral fat loading of apoB-48, as well as RLP-triglyceride levels, may help in the differential diagnosis of FHBL and ABL and provide a prompt diagnosis using genetic analysis in the future. More... »

PAGES

85-94

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/8904_2015_415

DOI

http://dx.doi.org/10.1007/8904_2015_415

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013316512

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25763510


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24 e.
25 extreme contrast
26 familial hypobetalipoproteinemia
27 fasting
28 fat load
29 fat loading
30 fat tolerance test
31 fat-soluble vitamins
32 fatty liver disease
33 findings
34 form
35 fraction
36 future
37 genetic analysis
38 homozygous familial hypobetalipoproteinemia
39 hypobetalipoproteinemia
40 hypocholesterolemia
41 hypolipidemia
42 inherited forms
43 levels
44 lipid levels
45 lipoprotein
46 liver disease
47 load
48 loading
49 materials
50 method
51 microscopic findings
52 mutations
53 nonalcoholic steatohepatitis
54 normal control subjects
55 oral fat tolerance test
56 overnight fasting
57 parents
58 particle fraction
59 particles
60 patients
61 postprandial remnant-like particles
62 prognosis
63 prompt diagnosis
64 rare inherited forms
65 remnant-like particles
66 samples
67 serum lipoproteins
68 steatohepatitis
69 subjects
70 test
71 therapy
72 tolerance test
73 vitamin
74 vitamin E.
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