Familial hypercholesterolemia is undertreated in clinical practice

E. Liberopoulos, F. Barkas, G. Liamis, M. Elisaf



Background: Familial hypercholesterolemia (FH) is related with premature coronary heart disease (CHD), while controversial data exist regarding non-coronary cardiovascular disease (CVD). Nevertheless, recent data have indicated underdiagnosis and undertreatment of this high risk condition.
Aim: To compare the prevalence of CVD and target attainment of lipid-lowering therapy between FH and non-FH hyperlipidemic individuals.
Methods: This was a retrospective (from 1999 to 2013) observational study including 1000 consecutive adults treated for hyperlipidemia and followed up for ≥3 years. Dutch Clinic Network criteria were applied for the diagnosis of FH. High-intensity statin therapy was defined according to the expected low-density lipoprotein cholesterol (LDL-C) reduction ≥50%. LDL-C targets were those proposed by the European and Hellenic Atherosclerosis Society guidelines. The following comparisons were performed between FH and non-FH individuals regarding: a) the baseline prevalence of CVD (after adjusting for gender, age, smoking, hypertension, diabetes and family history of premature cardiovascular disease), b) the intensity of statin treatment and the LDL-C target attainment at the most recent visit.
Results: Of 1000 eligible hyperlipidemic adults, 12% were diagnosed with heterozygous FH. A higher prevalence of CHD was noticed in FH individuals compared with the non-FH subjects at the baseline visit (adjusted OR: 2.89, 95% CI: 1.12-7.45, p <0.05), while no differences were found regarding the prevalence of non-coronary CVD. After a median follow-up of 6 years, a non-significant trend towards a higher risk of incident overall CVD (HR 1.14, 95% CI: 0.51-2.54, p >0.05) was noticed. During follow-up FH patients were more likely to receive a high-intensity statin or statin/ezetimibe combination treatment (64 vs 28%, p <0.05 and 63 vs 25%, p <0.05, respectively). Among those at high cardiovascular risk, both groups achieved low rates of LDL-C goal achievement (<100 mg/dL, 37 vs 44%, p >0.05). Among those at very high cardiovascular risk, patients with FH were less likely to achieve optimal LDL-C levels <70 mg/dL compared with the non-FH individuals (15 vs 25%, p <0.05).
Conclusions: FH is associated with a higher prevalence of CHD. Almost one third of FH patients do not receive intensive lipid-lowering treatment and a high proportion of them do not achieve LDL-C targets in clinical practice.

Keywords: familial hypercholesterolemia, cardiovascular disease, coronary heart disease, low-density lipoprotein cholesterol, target attainment, statin