Coronary Artery Disease
Conditions
Keywords
Familial hypercholesterolemia, Coronary artery disease
Brief summary
Evaluate the prevalence of familial hypercholesterolemia (FH) in patients with documented coronary artery disease (CAD) event \[acute myocardial infarction (AMI), acute coronary syndrome (ACS), coronary artery bypass graft (CABG) or percutaneous coronary intervention (PCI)\] followed by 100 cardiological centers representative of the whole Italian territory
Detailed description
Familial hypercholesterolemia (FH) is a disease that causes exposure to elevated plasma levels of LDL cholesterol (LDL-C, low-density lipoprotein) and increasing the risk of premature coronary heart disease (coronary artery disease, CAD). The FH is a co-dominant genetic disease and can occur in heterozygous and homozygous form, with different severity. The prevalence in whites is estimated to be 1.500 for heterozygous familial hypercholesterolemia (HeFH) and 1.1000000 for homozygous familial hypercholesterolemia (HoFH). This prevalence is probably an underestimate, as it is based on prevalence rates in in-patient and disease registries, and is influenced by the early mortality of patients with FH. The situation does not improve if we consider patients admitted for acute coronary event (myocardial infarction - AMI and / or unstable angina, - ACS). If we consider LDL cholesterol cumulative load in a person affected by FH, the best approach intervention to reduce cardiovascular mortality is an early diagnosis and treatment. The primary aim of the study is to evaluate the prevalence of FH in patients with documented CAD event (AMI, ACS, CABG or PCI) followed by 100 cardiologic centers representative of the whole Italian territory. The results will also permit to increase the cardiologists awareness of FH. Secondary objective will be the validation of Dutch Lipid Clinic Network (DLCN) criteria (annex 1), in the Italian CAD population (12). The characterization of the patients, carried out during the study, will allow to identify the priorities for health inteventions aimed at improving the FH diagnosis in the general population through the a cascade screening in the relatives of the genetically characterized subjects.
Interventions
None listed
Sponsors
Fondazione SISA
Heart Care Foundation
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients must have a documented coronary artery disease, more precisely: ACS PCI CABG The index event must be occurred between 15 days and 8 weeks preceding the enrollment. \- Written informed consent to participate to the study
Exclusion criteria
* Patients unwilling to give their written informed consent.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Familial hypercholesterolemia diagnosis | Inclusion | Dutch Lipid Clinic Network Score (DLCNS) for FH The DLCNS is a validated set of criteria based on the patients family history of premature cardiovascular disease (CVD) in their first degree relatives, their own CVD history, their untreated lipid levels and physical signs such as the presence of tendon xanthomata or arcus cornealis prior to the age of 45. The subsequent score categorizes patients by the likelihood of Familial Hypercholesterolaemia (FH) diagnosis. Definite FH if score \>8 Probable FH if score 6-8 Possible FH if score 3-5 Unlikely FH if score \<3 |
| Genetic examination | Inclusion | Sequencing of (LDLR, APOB, PVSK9 and LDLRAP1) |
Countries
Italy
Outcome results
None listed