MedPath

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

Completed
Conditions
Coronary Artery Disease
Registration Number
NCT03520140
Lead Sponsor
Heart Care Foundation
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.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
5415
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Genetic examinationInclusion

Sequencing of (LDLR, APOB, PVSK9 and LDLRAP1)

Familial hypercholesterolemia diagnosisInclusion

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

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (81)

Ospedale Maggiore - U.O. Di Cardiologia

🇮🇹

Bologna, Italy

Ospedale Ss. Trinita' - S.C. Di Cardiologia

🇮🇹

Borgomanero, Italy

Azienda Ospedaliera G. Brotzu - Struttura Complessa Di Cardiologia

🇮🇹

Cagliari, Italy

Presidio Ospedaliero F. Ferrari - Cardiologia - Utic

🇮🇹

Casarano, Italy

Ospedale Civile - Sc Cardiologia Area Nord

🇮🇹

Guastalla, Italy

Presidio Ospedaliero Paolo Borsellino - U.O.C Cardiologia- Utic

🇮🇹

Marsala, Italy

Aorn Cardarelli - U.O. Cardiologia Con Utic

🇮🇹

Napoli, Italy

Aorn Osp. Dei Colli- Po Vincenzo Monaldi - U.O.C. Cardiologia - S.U.N.

🇮🇹

Napoli, Italy

Policlinico Citta' Di Pomezia S. Anna - U.O. Cardiologia-Utic

🇮🇹

Pomezia, Italy

Ospedale Santa Maria Delle Grazie - U.O. Cardiologia - Utic

🇮🇹

Pozzuoli, Italy

Ospedale Umberto I - Uoc Cardiologia E Utic

🇮🇹

Siracusa, Italy

Centro Polifunzionale Boldrini - Cardiologia Riabilitativa-Cardioaction

🇮🇹

Thiene, Italy

Ospedale Di Circolo E Fondazione Macchi - Ssd Unita' Di Cure Intensive Coronariche

🇮🇹

Varese, Italy

Ics Maugeri Spa Societa' Benefit - Uo Cardiologia Riabilitativa

🇮🇹

Veruno, Italy

Ospedale Policlinico - U.O. Cardiologia Universitaria

🇮🇹

Bari, Italy

Azienda Ospedaliera G. Rummo - Cardiologia Interventistica E Utic

🇮🇹

Benevento, Italy

Ospedale Generale Regionale-Po U. Parini - U.O. Cardiologia E Cure Intensive Card.

🇮🇹

Aosta, Italy

Ospedale Civile - U.O.C. Cardiologia

🇮🇹

Arzignano, Italy

Ospedale Generale Regionale - Ospedale Generale Regionale Divisione Di Cardiologia

🇮🇹

Bolzano, Italy

Ospedale A. Cardarelli - U.O. Cardiologia E Utic

🇮🇹

Campobasso, Italy

Fondazione G. Giglio - U.O. Cardiologia E Utic

🇮🇹

Cefalù, Italy

Ospedale Di Cremona - Uo Di Cardiologia

🇮🇹

Cremona, Italy

Aou Careggi - Riabilitazione Cardiologica

🇮🇹

Firenze, Italy

E.O. Ospedali Galliera - S. C. Cardiologia

🇮🇹

Genova, Italy

Aou Maggiore Della Carita' - Cardiologia Ii

🇮🇹

Novara, Italy

Presidio Ospedaliero - U.O. Cardiologia

🇮🇹

Sanremo, Italy

Presidio Ospedaliero Di Saronno - U.O.C. Di Cardiologia

🇮🇹

Saronno, Italy

IRCCS Policlinico Multimedica - UO Cardiologia

🇮🇹

Sesto San Giovanni, Italy

Ospedali Riuniti - Osp. Maggiore - A.F. Cardiologia E Riabilitazione Cardio

🇮🇹

Trieste, Italy

Pou Santa Maria Della Misericordia - S.O.C. Cardiologia

🇮🇹

Udine, Italy

Ospedale E. Muscatello - U.O. Di Cardiologia - Utic

🇮🇹

Augusta, Italy

Osp. Andria Canosa - Po Andria - Cardiologia - Utic

🇮🇹

Andria, Italy

Ospedale Gen.Le Prov.Le C.G. Mazzoni - Sc Cardiologia

🇮🇹

Ascoli Piceno, Italy

Ospedale San Giovanni Di Dio - Clinica Cardiologica

🇮🇹

Cagliari, Italy

Az. Ospedaliera S. Anna E S. Sebastiano - U.O. Cardiologia-Utic

🇮🇹

Caserta, Italy

Ospedale Bassini - U.O. Cardiologia E Utic

🇮🇹

Cinisello Balsamo, Italy

Ospedale Valdichiana Santa Margherita - Uos Cardiologia E Hdu

🇮🇹

Cortona, Italy

Citta' Di Lecce Hospital - U.O. Di Cardiologia

🇮🇹

Lecce, Italy

Nuovo Ospedale Versilia - Sc Cardiologia

🇮🇹

Lido Di Camaiore, Italy

Ospedale Civile M. Giannuzzi - Cardiologia E Utic

🇮🇹

Manduria, Italy

Ospedale San Francesco - Cardiologia - Utic

🇮🇹

Nuoro, Italy

Ospedale Civico - U.O. Cardiologia

🇮🇹

Partinico, Italy

Ospedale San Pio Da Pietrelcina - Cardiologia

🇮🇹

Vasto, Italy

P.O. San Filippo Neri - Asl Roma 1 - Uoc Cardiologia E Utic

🇮🇹

Roma, Italy

Istituto Scientifico Inrca - Uo Cardiologia/Utic/Telecardiologia

🇮🇹

Ancona, Italy

Ospedale Di Cittadella - U.O. Cardiologia

🇮🇹

Cittadella, Italy

Ospedale Civile - U.O.C. Cardiologia - Utic

🇮🇹

Fidenza, Italy

Policlinico Di Monza - Uo Cardiol. Clinica E Scompenso Cardiaco

🇮🇹

Monza, Italy

Ospedale Civile Ave Gratia Plena - U.O. Di Cardiologia E Utic

🇮🇹

Piedimonte Matese, Italy

A.O.U.S. Giovanni Di Dio-Ruggi D'Aragona - Sc Di Cardiologia

🇮🇹

Salerno, Italy

Ospedale G. Fracastoro - U.O.C. Di Cardiologia

🇮🇹

San Bonifacio, Italy

Ospedale San Giuseppe E Melorio - U.O.C. Cardiologia Utic

🇮🇹

Santa Maria Capua Vetere, Italy

Ospedale San Matteo Degli Infermi - Servizio Di Cardiologia Con Utic

🇮🇹

Spoleto, Italy

Casa Di Cura Villa Verde - Cardiologia

🇮🇹

Taranto, Italy

Presidio Ospedaliero Moscati - U.O.C. Cardiologia

🇮🇹

Aversa, Italy

Campus Biomedico - Cardiologia

🇮🇹

Roma, Italy

Ospedale Madre Giuseppina Vannini - U.O.C. Cardiologia

🇮🇹

Roma, Italy

Ospedali Riuniti - Sod Cardiologia Ospedaliera Emod. E Utic

🇮🇹

Ancona, Italy

Ospedale San Paolo - Cardiologia-Utic

🇮🇹

Bari, Italy

P.O. Garibaldi-Nesima - U.O.C. Di Cardiologia

🇮🇹

Catania, Italy

Ospedale San Giuseppe Da Copertino - U.O. Di Cardiologia-Utic

🇮🇹

Copertino, Italy

Ospedale Civile Sant'Antonio Abate - U.O.C. Di Cardiologia E Utic

🇮🇹

Erice, Italy

Aou Careggi - Interventistica Cardiologica Strutturale

🇮🇹

Firenze, Italy

Ospedale Santa Maria Nuova - Hdu Cardiologica/Utic

🇮🇹

Firenze, Italy

Ospedali Riuniti - S.C. Di Cardiologia Univ.-Utic

🇮🇹

Foggia, Italy

Ospedale G.B. Morgagni - L. Pierantoni - U.O. Cardiologia

🇮🇹

Forlì, Italy

Ospedale G. Fucito - U.O. Di Cardiologia E Utic

🇮🇹

Mercato San Severino, Italy

Ospedale San Luigi Gonzaga - S.C.D.O. Cardiologia

🇮🇹

Orbassano, Italy

Maria Eleonora Hospital - Cardiologia

🇮🇹

Palermo, Italy

Centro Cuore Morgagni - U.F. Utic Ed Emodinamica

🇮🇹

Pedara, Italy

Ospedale San Jacopo - U.O. Cardiologia

🇮🇹

Pistoia, Italy

Arcispedale Santa Maria Nuova - S.C. Cardiologia

🇮🇹

Reggio Emilia, Italy

Ospedale Infermi - U.O. Cardiologia

🇮🇹

Rimini, Italy

Ospedale Casa Sollievo Della Sofferenza - Cardiologia - Utic - Riabil Cardiologica

🇮🇹

San Giovanni Rotondo, Italy

Ospedale Ignazio Veris Delli Ponti - Uoc Cardiologia-Utic

🇮🇹

Scorrano, Italy

Ospedale San Timoteo - Ssd Cardiologia Emodinamica

🇮🇹

Termoli, Italy

Aou Citta' Della Salute E Della Scienza-Scdu Cardiologia

🇮🇹

Torino, Italy

Ospedali Treviglio-Caravaggio - Cardiologia

🇮🇹

Treviglio, Italy

Policlinico Casilino - U.O. Cardiologia

🇮🇹

Roma, Italy

Maria Cecilia Hospital - U.O. Di Cardiologia

🇮🇹

Cotignola, Italy

Policlinico Umberto Primo - Cardiologia B - Cardiologia E Angiologia

🇮🇹

Roma, Italy

© Copyright 2025. All Rights Reserved by MedPath