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(Arteriosclerosis, Thrombosis, and Vascular Biology. 2005;25:1979.)
© 2005 American Heart Association, Inc.

Atherosclerosis and Lipoproteins

Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia

Raaj R. Sankatsing; Sigrid W. Fouchier; Stefan de Haan; Barbara A. Hutten; Eric de Groot; John J.P. Kastelein; Erik S.G. Stroes

From the Departments of Vascular Medicine (R.R.S., S.W.F., S.H., E.G., J.J.P.K., E.S.G.S.) and Clinical Epidemiology and Biostatistics (B.H.), Academic Medical Center, Amsterdam, the Netherlands.

Correspondence to Raaj R. Sankatsing, MD, Department of Vascular Medicine, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. E-mail r.r.sankatsing{at}amc.uva.nl

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.

Methods and 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.

We investigated the risk for fatty liver disease (FLD) and cardiovascular disease (CVD) in familial hypobetalipoproteinemia (FHBL) subjects and in healthy controls. Whereas the prevalence of FLD was increased in FHBL, carotid arterial wall stiffness, a surrogate marker for CVD, was decreased suggesting that these subjects are relatively protected against developing CVD.

Key Words: apolipoprotein B • arterial stiffness • cardiovascular risk • familial hypobetalipoproteinemia • fatty liver disease

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