To test the hypothesis whether the Intima Media Thickness differs between FH carriers without apparent dyslipidemia and the group of FH carriers with apparent dyslipidemia and a control group consisting of persons tested by the StOEH who did not…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Arteriosclerosis, stenosis, vascular insufficiency and necrosis
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
(carotid) Intima media thickness compared between groups
Secondary outcome
Achilles tendon thickness compared between groups
General (Total cholesterol, HDL cholesterol, LDL cholesterol etc.)
Background summary
FH carriers have a severely increased risk of development of arterial vascular
problems, in particular of coronary heart disease. When left untreated FH
carriers suffer from cardiovascular disease on average at 45 years and women on
average 10 years later. Early detection and start of cholesterol lowering
medication early in life can result in substantial increase in life expectancy.
For that reason a genetic cascade screening for detecting of FH has been
performed in the Netherlands since 1994. The mode is genetic cascade screening,
meaning that if in an index patient a mutation has been detected the first
generation family members of this individual will be tested for the presence of
that specific mutation and if present so onwards. Recent data suggests that in
the last few years increasing percentage of FH carriers detected have no or
only mild dyslipidemia. The prognosis with respect to cardiovascular risk of
this group is unknown. We hypothesise that the Intima Media Thickness used as
estimate of cardiovascular risk in the group of FH carriers without apparent
dyslipidemia differs significantly from the group of FH carriers with apparent
dyslipidemia.
Study objective
To test the hypothesis whether the Intima Media Thickness differs between FH
carriers without apparent dyslipidemia and the group of FH carriers with
apparent dyslipidemia and a control group consisting of persons tested by the
StOEH who did not have FH. Subsequently an objective is to test whether
Achilles Tendon Thickness assessed by ultrasound could aid the clinical
diagnosis of FH in the group of FH-carriers with a relatively low
LDL-cholesterol.
Study design
This study consists of an observational study with a single study visit. During
this visit a medical history, examination, blood collection and an ultrasound
measurement of the carotid intima-media thickness and achilles tendon thickness
will be performed.
Study burden and risks
Hardly any risks are involved in this study. A single venapuncture, during
which 50 ml blood will be collected, will be done. Furthermore a non invasive
ultasound of the carotid arteries and the Achilles tendons will be performed.
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Listed location countries
Age
Inclusion criteria
Included are persons aged 18-50 years with a molecular diagnosis of Familial Hypercholesterolemia with an LDL-cholesterol either below or above their age- and sex-specific 75th or 90th percentile respectively on their fasting treatment naïve lipid measurement performed by the StOEH (Foundation for Identification of Hereditary Hypercholesterolemia) during first visit. The inclusion criteria for the healthy control population are described in a separate MEC application.
Exclusion criteria
Excluded are persons in whom for example due to surgery in the cervical region carotid Intima-Media Thickness measurements will be technically not possible to perform; and persons who were screened by the StOEH more than 18 months before we can approach them, persons with a body mass index over 35 kg/m2;. Furthermore, patients with a serious uncontrolled hepatic, haematological, renal, gastrointestinal, endocrinological, pulmonary, cardiac or neurological disorder will be excluded; and persons who have noted that they don*t want to be approached for further research.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL17965.018.07 |