Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia

Summary: The main objective of SAFIR is to identify the atherosclerotic genetic factors in these patients, which will identify new therapeutic targets for the treatment of CV and Familial Hypercholesterolemia diseases. In addition, SAFIR will allow the identification of new CV protection biomarkers, which will be useful tools for the development of a personalized medicine for the management of dyslipidemias.

Detailed description: The objective of the SAFIR study is to perform non-invasive coronary vascular phenotyping of familial hypercholesterolemia (FH) families by performing a coronary calcium score and then to detect protective genetic factors in patients who do not have a significant atheroma despite a perturbed biological phenotype.
  The investigators will also conduct biochemical, lipidemic and metabolomic analyzes to identify a signature of biomarkers protective of cardiovascular risk in FH patients.
  The investigators will use the French FH register, which already includes 3889 patients, to identify these "protected" FH families within the main reference centers for the management of FH for inclusion and follow-up of patients.

Eligibility: 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
  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

Relevance to patient case: not relevant