Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia.
OBJECTIVE
Individuals with familial hypobetalipoproteinemia (FHBL) have been reported to be prone to fatty liver disease (FLD). Conversely, the profound reduction of low-density lipoprotein (LDL) cholesterol in this disorder might decrease cardiovascular risk. In the present study, we assessed hepatic steatosis as well as noninvasive surrogate markers for cardiovascular disease (CVD) in subjects with FHBL and in matched controls.


RESULTS
Hepatic steatosis was assessed by abdominal ultrasonography. Carotid intima-media thickness (IMT) and distal common carotid arterial wall stiffness as surrogate markers for CVD risk were measured using high-resolution B-mode ultrasonography. Whereas transaminase levels were only modestly elevated, both prevalence (54% versus 29%; P=0.01) and severity of steatosis were significantly higher in FHBL individuals compared with controls. Despite similar IMT measurements, arterial stiffness was significantly lower in FHBL (P=0.04) compared with controls. Additionally, the increase in arterial stiffness as seen in the presence of traditional risk factors was attenuated, suggesting that very low levels of apoB-containing lipoproteins can negate the adverse effects of other risk factors on the vasculature.


CONCLUSIONS
FHBL is characterized by an increased prevalence and severity of fatty liver disease. The observed decreased level of arterial wall stiffness, most pronounced in the presence of nonlipid risk factors, is indicative of cardiovascular protection in these subjects.
Department of Vascular Medicine, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. r.r.sankatsing@amc.uva.nl
Raaj R
RR
Sankatsing
Sigrid W
SW
Fouchier
Stefan
S
de Haan
Barbara A
BA
Hutten
Eric
E
de Groot
John J P
JJ
Kastelein
Erik S G
ES
Stroes
D000328:Adult; D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics; D002340:Carotid Artery Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology*; D008078:Cholesterol, LDL / Q000097:blood; D005234:Fatty Liver / Q000000981:diagnostic imaging / Q000453:epidemiology*; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012307:Risk Factors; D012720:Severity of Illness Index; D014463:Ultrasonography
D001055:Apolipoproteins B; D008078:Cholesterol, LDL