Search for familial hypercholesterolemia patients in an Italian community: A real-life retrospective study

Familial 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 und...

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Published in:Nutrition, metabolism, and cardiovascular diseases metabolism, and cardiovascular diseases, 2022-03, Vol.32 (3), p.577-585
Main Authors: Fasano, Tommaso, Trenti, Chiara, Negri, Emanuele A., Guiducci, Vincenzo, Foracchia, Marco, Bonelli, Efrem, Canovi, Simone, Besutti, Giulia, Bertolini, Stefano, Calandra, Sebastiano
Format: Article
Language:English
Subjects:
Atherosclerosis
Atherosclerotic Cardiovascular Disease (ASCVD)
Cardiology
Cholesterol, LDL
Dutch Lipid Clinic Network (DLCN) score
ESC/EAS guidelines
Familial Hypercholesterolemia
Humans
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - epidemiology
Hyperlipoproteinemia Type II - genetics
Low-Density Lipoprotein Cholesterol (LDL-C)
Retrospective Studies
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Summary:Familial 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. We 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. By 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. •Clinical data from laboratory/cardiology/lipid clinic were used for FH identification.•Laboratory data supported the suspicion of FH in 3243 out of 221,644 subjects.•Probable/definite FH was suspected in 3% of patients with coronary artery disease.•Molecularly-confirmed FH was found in 44% of patients referred to the lipid clinic.•Under set LLT, the attainment of LDL-C goals was poor and needs improvement.
ISSN:0939-4753
1590-3729
DOI:10.1016/j.numecd.2021.12.024