Triglycerides, hypertension, and smoking predict cardiovascular disease in dysbetalipoproteinemia

•Dysbetalipoproteinemia (DBL) is a rare autosomal recessive lipid disorder. •DBL is associated with an increased cardiovascular disease (CVD) risk. •Triglycerides, hypertension, and smoking are independent predictors of CVD in DBL. 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. 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. 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. The inclusion criteria included age ≥ 18 years, apoE2/E2, triglycerides (TG) > 135 mg/dL and VLDL-C/plasma TG ratio > 0.30. 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). 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.