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Abstract
Heterozygous familial hypercholesterolemia (heFH) is a common autosomal dominant hereditary
disorder caused by mutations in the LDL-receptor gene that lead to elevated plasma
levels of low-density lipoprotein-cholesterol (LDL-c). Robust lowering of LDL-c levels
is essential for risk reduction of premature cardiovascular diseases and early death.
European and Dutch guidelines recommend to treat LDL-c to plasma levels <2.5mmol/l.
In the present study we evaluated the treatment of heFH patients in The Netherlands.
A cross-sectional study was conducted in outpatient lipid clinics of three Academic
Centers and two regional hospitals. Patient records of known heFH patients were retrieved
and data were reviewed on the use of lipid-lowering medication, plasma lipids and
lipoproteins, safety laboratory results and reasons for not achieving treatment goals.
The data of 1249 patients with heFH were available. Nearly all patients (96%) were
on statin treatment. The treatment goal for LDL-c <2.5mmol/l was achieved in 261 (21%)
patients. Among those who did not reach LDL-c goals, 261 (27%) were on combination
therapy of maximum statin dose and ezetimibe. Main reason (32%) why patients did not
use maximum therapy despite an LDL-c >or=2.5mmol/l, was acceptance of a higher target
LDL-c level by the treating physician. An alternative treatment goal of >50% LDL-c
reduction, as recommended in the NICE guidelines, was achieved in 47% of patients
with an LDL-c >or=2.5mmol/l and not using maximum therapy.
Only a small proportion of patients with heFH reaches the LDL-c treatment target of
<2.5mmol/l. These results emphasize the need for better monitoring, better utilization
of available medication and for new treatment options in heFH to further decrease
LDL-c levels.