Dysbetalipoproteinemia
Conditions
Keywords
dysbetalipoproteinemia, artery calcium score, carotid intima media, ankle brachial index, dysbetalipoproteinemic patients
Brief summary
Dysbetalipoproteinemia (type III, Fredrickson's classification) is a rare metabolic disorder. It results from a defect in the clearance of VLDL and chylomicron remnants due to homozygous APOE2 variants or heterozygous APOE mutations, and there is an elevated plasma cholesterol and triglycerides. As a consequence of the derangements in lipoprotein metabolism, dysbetalipoproteinemia predispose to the premature development of atherosclerosis. However among this population there is heterogeneity in development of cardiovascular complications and the determinants remain unclear actually. The aim of the investigators study is to evaluate the intensity of clinical atherosclerosis, and identify its determinants.
Interventions
None listed
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
40 Years to No maximum
Healthy volunteers
No
Inclusion criteria
\- apo E gene sequencing in CBE (Centre de Biologie Est / Hospices Civils de Lyon / France) laboratory in Lyon until December 2012
Exclusion criteria
* age \< 40 years * refused participation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Computed tomographic measurements for coronary-artery calcium | Day one : the coronary calcium score is assessed on the date of measurement | Comparison with eventual previous examinations. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of carotid intima-media by ultrasonography | Day one : on the date of measurement | Comparison with eventual previous examinations. |
| Measurement of ankle brachial index | Day one : on the date of measurement | Comparison with eventual previous examinations |
Countries
France
Contacts
Primary ContactPhilippe MOULIN, Pr
Outcome results
None listed