The prevalence of peripheral vascular disease in familial hypercholesterolaemia.

OBJECTIVES In patients with familial hypercholesterolaemia (FH), the prevalence of haemodynamically significant peripheral vascular disease (PVD) was measured in relation to lipoproteins, general risk factors and the presence of coronary artery disease (CAD). DESIGN A case control study. SETTING The outpatient lipid clinic of a university hospital (tertiary referral centre). SUBJECTS Patients with heterozygous FH [n = 68; age 45.8 +/- 11.6 years; untreated LDL-cholesterol 9.2 +/- 2.0 mmol L-1] were compared with control subjects matched for gender, age, weight, smoking and presence of hypertension [n = 27; age 44.0 years; LDL-cholesterol 3.8 +/- 1.3 mmol L-1]. MAIN OUTCOME MEASURES PVD was assessed during cholesterol-lowering treatment using ankle/arm blood pressure ratios and analyses of Doppler-derived blood flow velocities in the femoral artery at rest and during reactive hyperaemia. The diagnosis of CAD was assessed clinically. RESULTS Haemodynamically significant PVD was found in 21 (31%) FH patients and in one (3.7%) control subject, predominantly localized in the femoro-popliteal vessels. CAD was present in 30 (44.1%) FH patients and in one (3.7%) control subject. PVD could be demonstrated in 50% of FH patients with CAD [relative risk 3.2 (95% CI 1.4-7.2)] and in 19% as the first manifestation of vascular disease. Males and females were equally affected. Mean arterial blood pressure of FH patients with PVD was higher compared to FH patients without PVD. CONCLUSIONS Haemodynamically significant PVD appears to be more prevalent in FH patients than is generally assumed, especially in those with CAD. A relation with lipoprotein levels could not be demonstrated.