Published Online
on June 7, 2004

A more recent version of this article appeared on June 22, 2004

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Submitted on November 24, 2003
Revised on March 2, 2004
Accepted on March 4, 2004

Nomogram to Diagnose Familial Combined Hyperlipidemia on the Basis of Results of a 5-Year Follow-Up Study

Mario J. Veerkamp MD, Jacqueline de Graaf MD, PhD^*, Jan C.M. Hendriks PhD, Pierre N.M. Demacker PhD, and Anton F.H. Stalenhoef MD, PhD

From the Department of Medicine, Division of General Internal Medicine (M.J.V., J.d.G., P.N.M.D., A.F.H.S.), and Department of Epidemiology and Biostatistics (J.C.M.H.), University Medical Center Nijmegen, Nijmegen, the Netherlands.

^* To whom correspondence should be addressed. E-mail: J.deGraaf{at}aig.umcn.nl.

Background--Familial combined hyperlipidemia (FCH) is traditionally diagnosed by total plasma cholesterol and/or triglyceride levels above the 90th percentile adjusted for age and gender. In a recent study, we showed that the diagnosis of FCH on the basis of these diagnostic criteria was inconsistent in 26% of the subjects over a 5-year period. This result emphasizes the need for reevaluation of the diagnostic criteria for FCH.

Methods and Results--A total of 32 families (299 subjects) were studied in 1994 and 1999. A subject was defined "truly" FCH when diagnosed FCH in 1994 and/or 1999 on the basis of traditional plasma lipid criteria. Additional lipid and lipoprotein parameters, including apolipoprotein B (apoB) and small, dense LDL, were measured at both time points. In total, 121 subjects (40%) were defined as truly FCH. Multivariate analysis revealed that absolute apoB values combined with triglyceride and total cholesterol levels adjusted for age and gender best predicted truly FCH. A nomogram including these parameters is provided to simply and accurately calculate the probability to be affected by FCH. Furthermore, it is shown that when percentiles of triglyceride and total cholesterol adjusted for age and gender are not available in a population, the definition of FCH can be established on the basis of hypertriglyceridemia (>1.5 mmol/L) and hyper-apoB (>1200 mg/L).

Conclusions--The diagnosis of FCH is best predicted by absolute apoB levels combined with triglyceride and total cholesterol levels adjusted for age and gender and can accurately be calculated by a nomogram. This definition is also a good predictor of cardiovascular risk in FCH.

Key words: apolipoproteins • diagnosis • follow-up studies • hyperlipoproteinemia

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