DARK STUDY "DysbetalipoproteinemiA and atheRoma Risk"

Civil Hospices of Lyon

Status: Unknown

Conditions: Dysbetalipoproteinemia

Study type: Observational

Funder types: Other

Identifiers

NCT01760265

1

Details and patient eligibility

About

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.

Enrollment: 50 estimated patients

Sex: All

Ages: 40+ years old

Volunteers: No Healthy Volunteers

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