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

JIMD Reports
Masa-Aki KawashiriMasakazu Yamagishi

Abstract

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. 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. 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, s...Continue Reading

Citations

May 1, 2020·Journal of Atherosclerosis and Thrombosis·Hayato TadaMasa-Aki Kawashiri
Dec 14, 2018·Journal of Clinical Lipidology·Mathilde Di FilippoDominique Bonnefont-Rousselot
Sep 24, 2021·Journal of cardiology·Hayato TadaMasayuki Takamura
May 29, 2018·Journal of cardiology·Masa-Aki KawashiriMasakazu Yamagishi

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