Risk Stratification in Patients with Familial Hypercholesterolemia

Since the introduction of statin therapy as cholesterol-lowering medication in the 1990s, the life expectancy of patients with familial hypercholesterolemia (FH) has improved significantly. However, despite the wide-spread use of statins among FH patients, some still do develop cardiovascular disease (CVD). The aim of this thesis was to develop an approach to identify the residual CVD risk in statin-treated FH patients. Therefore, in part 1 I investigated the value of applying imaging techniques such as carotid ultrasonography and computed tomography coronary angiography (CTCA) (chapter 2,3 and 4), and in part 2 measurement of non-traditional and traditional risk factors such as lipoprotein (a) [Lp(a)] levels in statin treated FH patients (chapter 5, 6) to distinguish who are high-risk FH patients and who not. In Chapter 7 I discussed the different treatment options of high Lp(a) levels. In Chapter 8 I concluded by using a proteomics technique to identify novel proteins that are associated with cardiovascular disease and coronary calcification in statin treated FH patients.

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