GENETIC CAUSES OF DYSLIPIDEMIA AND CARDIOVASCULAR DISEASE

Hereditary disorders of lipid metabolism are rare. Therefore it is not entirely
known what these disorders teach us about normal function of lipid metabolism.
Furthermore, in many of these disorders, the effect on atherosclerotic risk is
undetermined. Clarification of this effect would elucidate the importance of
the genes and proteins in lipid metabolism.
Some patients develop cardiovascular disease that cannot be sufficiently
explained by underlying risk factors. Sometimes entire families are affected.
An unidentified genetic defect/disorder could explain this pattern.

We set out to evaluate the genetic basis of dyslipidemia and cardiovascular
disease.

This study will focus on index patients and their families with genetically
defined dyslipidemia and/or cardiovascular disease. If specific dyslipidemic or
cardiovascular disorders are identified, we plan to perform cross-sectional
case-control studies. The results obtained in genetically affected subjects are
compared with family controls that are matched for age, sex and smoking status.
All patient data and samples will be stored for 15 years.

The study consists of a house visit with blood withdrawal, and a visit to the
hospital, where ultrasonograpic imiaging will take place. We will determine
thickness of the vascular wall of the carotid artery in the neck: intima media
thickness (IMT). We will also measure flow mediated dilation (FMD) of of the
artery in the lower arm. This reflects function of the endothelium, the tissue
that covers the inside of vessel wall. In some cases, a small skin biopsy will
be performed.

bepaling van de dikte van de vaatwand van de halsslagader: intima media
thickness (IMT). Ook willen we flow mediated dilation (FMD) van de
onderarmsslagader meten, een maat voor de functie van het endotheel, de
vaatwandbekleding.
In enkele gevallen zal ook een huidbiopsie verricht worden.