Management of Patients with Familial Hypercholesterolemia : cure and care

Familial hypercholesterolemia (FH), is an autosomal dominant disorder of the lipid metabolism with a prevalence of 1:244 in The Netherlands. FH is caused by pathogenic mutations in the low-density lipoprotein receptor (LDLR), Apolipoprotein B (APOB) or PCSK9 gene and characterized by high levels of LDL-Cholesterol (LDL-C) leading to high risk of cardiovascular disease (CVD) at premature age. Prevention of CVD consist of the combination of lipid lowering therapy and lifestyle modification. In this thesis, we studied several parts of the management of patients with FH.
Chapter 2 describes in a review the usefulness and necessity of lipid testing. Why should we test lipids, who should we test according the guidelines and when should we test lipids.
Chapter 3 describes the setting of cascade screening of patients with FH in The Netherlands and specially the screening of children with FH.
Chapter 4 describes that despite effective treatment with optimal lipid lowering treatment patients with FH still develop CVD.
Chapter 5 describes the development of a prediction model to identify non adherent FH patients.
Chapter 6 reported gender differences in lipid profile, lipid lowering therapy and statin adverse effects.
Finally chapter 7 described the first clinical experience of a recently new class of lipid lowering therapy; Proprotein Convertase Subtilisin / Kexin 9 (PCSK9) inhibitors in FH patients.