Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia (SAFIR)
Homozygous Familial Hypercholesterolemia
About this trial
This is an interventional other trial for Homozygous Familial Hypercholesterolemia
Eligibility Criteria
Inclusion Criteria:
- Patient agreeing to sign the consent of the study and the consent of biocollection
- Patient suffering from a familial hypercholesterolemia with a clinically-biologic score DLCN (Dutch Lipid Clinic Network, Annex 2)> 8 and / or a causative mutation identified in the LDL receptor genes, apolipoprotein B100 or Of PCSK9.
- Men ≥ 40 years of age; Female ≥ 50 years
- Patient affiliated to an existing social insurance
The inclusion criteria to be met in the population with known coronary atheroma:
- Subject in secondary prevention of an atheromatous disease: coronary event or ischemic heart disease, irrespective of the result of the coronary calcium score; Ischemic stroke with proven carotid atheromatosis; revascularization (angioplasty, bypass surgery) or amputation in PAD
- Primary prevention topic CV with calcium score ≥ 400 Agatston units
Inclusion criteria to be met in the population without cardiovascular risk:
- No cardiovascular event (including MI, coronary revascularization, angina, stroke &, Transiant ischemic attack of atheromatous origin, PAD) with: For women between 50 and 65 years, a nil calcium score * For women between 65 and 75 years of age, a calcium score** ≤ 10 Agatston units For women over 75 years of age, a calcium score** ≤ 20 Agatston units For men between 40 and 55 years of age, a nil calcium score* for men For men between 55 and 70 years of age, a calcium score** ≤ 10 Agatston units For men over 70 years of age, a calcium score** ≤ 20 Agatston units
- 40 year old men and 50 year old women: less than 6 months old
- 41 year old men and 51 year old women: under 1 year old
- 42 year old men and 52 year old women: under 2 years old
- 43 year old men and 53 year old women: under 3 years old
44 year old men and 54 year old women: under 4 years old
- Less than 5 years
Inclusion criteria to be met in the related population with familial hypercholesterolemia :
- Patient agreeing to sign the consent of the study and the consent of biocollection
- Patient suffering from a familial hypercholesterolemia with a clinically-biologic score DLCN (Dutch Lipid Clinic Network, Annex 2)> 8 and / or a causative mutation identified in the LDL receptor genes, apolipoprotein B100 or Of PCSK9.
- Men or Female ≥ 30 years
- Patient affiliated to an existing social insurance
Inclusion criteria to be met in the related population without familial hypercholesterolemia :
- Patient agreeing to sign the consent of the study and the consent of biocollection
- Patient not suffering from a familial hypercholesterolemia related to one of the members of the population suffering from familial hypercholesterolemia without cardiovascular risk
- Men or Female ≥ 18 years
- Patient affiliated to an existing social insurance
Exclusion Criteria:
- Subject suffering from active cancer or progressive neoplasia
- Subject treated with recent corticosteroid therapy
- Subjects with unsubstituted or poorly controlled hypothyroidism (TSH> normal)
- Subject receiving immunosuppressive or anti-cancer treatment
- Subject refusing to participate
- Subjects under tutelage, curatorship or a safeguard of justice or without social insurance
The exclusion criterion for all populations except the related population without familial hypercholesterolemia:
- Subject with no "definite" familial hypercholesterolemia according to the DLCN score (≤8), after auction. The purpose of the auction will be to rule on the causal nature of an identified mutation.
Sites / Locations
- Le Bocage Hospital
- CHRU de Lille
- Louis Pradel Cardiovascular Hospital
- La Conception Hospital
- Nantes University Hospital
- Saint-Antoine Hospital
- Pitié-Salpêtrière Hospital
- Rennes University Hospital
- Toulouse Hospital
Arms of the Study
Arm 1
Arm 2
Arm 3
Other
Other
Other
Atherosclerosis- resistance
Control
the related population without familial hypercholesterolemia
FH Patient without atherosclerosis
FH patient with atheroclerosis
No FH patient