Purpose:

Heterozygous Familial Hypercholesterolemia (HeFH) is a common genetic disease responsible for premature atherosclerosis. Therefore, early diagnosis and initiation of a treatment early as at the age of eight years old are recommended to reduce cardiovascular risk. Child-parent screening based on plasma LDL-cholesterol has been proposed to identify patients with hypercholesterolemia. However, in children, venipuncture is often an obstacle for screening. This study aims to evaluate the performance and feasibility of a dried blood spot collection to screen hypercholesterolemia.

Method: The lipid profile of 30 healthy and 30 hypercholesterolemic patients will be determined using Dried Blood Spot (DBS) collection and veinipuncture.

The study is conducted in accordance with the principles of the Declaration of Helsinki. The children, their parents and patients will be informed about this study according to the French bioethics law and will be included only after their agreement

Hypothesis

• to evaluate the performance of the determination of total and LDL-cholesterol using a dried blood spot collection to screen hypercholesterolemia
• to evaluate the feasibility of a dried blood spot collection to screen hypercholesterolemia

Inclusion Criteria:

• patients/kindreds in family with a documented history of hypercholesterolemia
• healthy subjects for controls

Exclusion Criteria:

• refusal to participate in the study
• For control patients: to have a known dyslipidemia

Children and adults with heterozygous familial hypercholesterolemia and healthy subjects