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We therefore identified FHBL and MGUS independently of each other in an asymptomatic diabetic patient who was referred for further evaluation of his extremely low serum cholesterol concentration.
* FHBL is an autosomal codominant disorder that may be caused by mutations in the gene encoding apo B that lead to the formation of truncated apo B species.
* FHBL heterozygotes are often symptom free but may also present with nonalcoholic fatty liver disease and a mild increase in serum concentrations of liver enzymes.
From this analysis, we have shown that the novel c.G1124A mutation causes FHBL by disrupting splicing.
In persons with FHBL, tocopherol delivery to tissues occurs primarily through chylomicron and HDL metabolism (6).
We used the relationship between plasma and cellular tocopherol concentrations and urinary markers of tocopherol intake and oxidative stress as a means to investigate the effects of truncated apoB variants in FHBL on vitamin E metabolism.
The primary study included 9 individuals with heterozygous FHBL and 7 normolipidemic individuals.
Moreover, hepatic ultrasonography performed in FHBL individual II:1 (the father) was consistent with fatty liver, whereas the results in unaffected individuals II:2 and III:2 were normal.
Extremely low plasma concentrations of LDL-cholesterol and apoB (below the 5th percentile for age and sex) are characteristic of FHBL, a codominant disorder that can be caused by mutations in the APOB gene (2, 3).
ApoB concentrations in FHBL individuals are typically one third of normal.
FHBL is a rare autosomal codominant disorder of lipoprotein metabolism characterized by low plasma concentrations of total cholesterol, LDL-cholesterol, and apoB (20).
Heterozygotes for FHBL are often asymptomatic but have plasma LDL-cholesterol and apoB concentrations that are one fourth to one third of normal (below the 5th percentiles for age and sex).
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