Prevalence of Familial Hypercholesterolaemia (FH) in Italian Patients With Coronary Artery Disease

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

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Key information

Conditions

Coronary Artery Disease Arterial Occlusive Diseases Arteriosclerosis Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Coronary Disease Dyslipidemias Genetic Diseases, Inborn Heart Diseases Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Myocardial Ischemia Nutritional and Metabolic Diseases Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Istituto Scientifico Inrca - Uo Cardiologia/Utic/Telecardiologia, Ancona, Italy

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

Familial hypercholesterolemia diagnosis

Time frame: 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

Time frame: Inclusion

Sequencing of (LDLR, APOB, PVSK9 and LDLRAP1)

Sponsors and collaborators

Lead sponsor

Heart Care Foundation

Other

Collaborators

Fondazione SISA

Registry information

Acronym: POSTER

Important dates

Study start: 2016
Primary completion: 2018
Study completion: 2018
First posted: May 9, 2018
Registry last updated: Oct 9, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed