Search for familial hypercholesterolemia patients in an Italian community: A real-life retrospective study |
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| Affiliation: | 1. Cardiac, Thoracic and Vascular Department, University of Pisa, Italy;2. Cardiology and Cardiovascular Pathophysiology, University of Perugia, Italy;3. Dpt. of Clinical and Experimental Medicine Section of Cardiology, University of Messina, Italy;4. Chair of Cardiology, Dept. of Medicine, Surgery and Dentistry, University of Salerno, Italy;5. Department of Cardiology, University Hospital Foggia, Italy;6. Department of Cardiology, University Hospital of Parma, Parma, Italy;7. Division of Cardiology, Fondazione I.R.C.C.S. Policlinico San Matteo, Pavia, Italy;8. Department of Cardiology, University of Brescia and ASST Spedali Civili di Brescia, Italy;9. Cardiovascular Diseases Unit, Department of Internal Medicine, University of Siena, Italy;10. Heart Failure Unit, AORN dei Colli, Monaldi Hospital, Naples, Italy;11. Department of Translational Medical Sciences, Federico II University, Naples, Italy;12. Heart Failure Unit, Cardiology Department, Guglielmo da Saliceto Hospital, AUSL, Piacenza, Italy;13. CERICLET-Centro Ricerca Clinica e Traslazionale, University of Perugia, Italy;1. Cardiovascular Disease Unit, Policlinic Hospital San Martino IRCCS & Department of Internal Medicine, University of Genova, Genova, Italy;2. ANMCO Research Centre, Florence, Fondazione per il Tuo cuore – HCF onluse, Florence, Italy;3. Department of Cardiology, Santa Maria degli Angeli Hospital, Pordenone, Italy;4. Therapeutic Science and Strategy Unit (TSSU), IQVIA, Milan, Italy;5. Dipartimento Cardio-Toraco-Vascolare, Azienda Ospedaliera G. Brotzu—San Michele, Cagliari, Italy;6. Department of Cardiovascular Research, IRCCS-Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy;7. Fondazione per il Tuo cuore – HCF onlus, Florence, Italy;8. Scientific Direction, Maria Cecilia Hospital, GVM Care and Research, Ettore Sansavini Health Science Foundation, Cotignola, Italy |
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| Abstract: | Background and aimsFamilial hypercholesterolemia (FH) is a common inherited disorder of low-density lipoprotein (LDL) catabolism that causes elevated LDL-cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease (ASCVD). Despite the availability of effective treatments, FH remains underdiagnosed and undertreated. The aims of the study were to identify putative FH subjects using data from laboratory and cardiology databases, genetically characterize suspected FH patients referred to the Lipid Clinic and monitor attainment of treatment goals in identified patients.Methods and resultsWe retrieved the electronic health records of 221,644 individuals referred to laboratory for routine assessment and of 583 ASCVD patients (age ≤65) who underwent percutaneous transluminal coronary angioplasty (PTCA). We monitored the lipid profiles of subjects with LDL-C ≥ 250 mg/dl identified by laboratory survey (LS-P), PTCA patients and patients from the Lipid Clinic (LC-P). The laboratory survey identified 1.46% of subjects with LDL-C ≥ 190 mg/dl and 0.08% with LDL-C ≥ 250 mg/dl. Probable/definite FH was suspected in 3% of PTCA patients. Molecularly-confirmed FH was found in 44% of LC-P subjects. Five new LDLR mutations were identified. The 50% LDL-C reduction target was achieved by 70.6% of LC-P patients. Only 18.5% of PTCA patients reached the LDL-C < 55 mg/dl target.ConclusionBy using a combined approach based on laboratory lipid profiles, documented ASCVD and Lipid Clinic data, we were able to identify subjects with a high probability of being FH. Attainment of LDL-C goals was largely suboptimal. Efforts are needed to improve FH detection and achievement of lipid targets. |
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| Keywords: | Familial Hypercholesterolemia Low-Density Lipoprotein Cholesterol (LDL-C) Atherosclerotic Cardiovascular Disease (ASCVD) Dutch Lipid Clinic Network (DLCN) score ESC/EAS guidelines |
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