BACKGROUND: Dysbetalipoproteinemia (DBL) is an autosomal recessive lipid disorder associated with a reduced clearance of remnant lipoproteins and is associated with an increased cardiovascular disease (CVD) risk. The genetic cause of DBL is apoE2 homozygosity in 90% of cases. However, a second metabolic hit must be present to precipitate the disease. However, no study has investigated the predictors of CVD, peripheral artery disease and coronary artery disease in a large cohort of patients with DBL.
OBJECTIVE: The objectives of this study were to describe the clinical characteristics of a DBL cohort and to identify the predictors of CVD, peripheral artery disease, and coronary artery disease in this population.
METHODS: The inclusion criteria included age ≥ 18 years, apoE2/E2, triglycerides (TG) > 135 mg/dL and VLDL-C/plasma TG ratio > 0.30.
RESULTS: We studied 221 adult DBL patients, of which 51 (23%) had a history of CVD. We identified 3 independent predictors of CVD, namely hypertension (OR 5.68, 95% CI 2.13-15.16, P = .001), pack year of smoking (OR 1.03, 95% CI 1.01-1.05, P = .01) and TG tertile (OR 1.82, 95% CI 1.09-3.05, P = .02). The CVD prevalence was 51% in patients with hypertension and 18% in those without hypertension (P = .00001), and 30% in the highest TG tertile vs 15% in the lowest tertile (P = .04). Similarly, the CVD prevalence was higher in heavy smokers compared with nonsmokers (36% vs 13%, P = .006).
CONCLUSION: Hypertension, smoking, and TG are independently associated with CVD risk in patients with DBL. Aggressive treatment should be initiated in patients with DBL because of the increased risk of CVD.