Screening and treatment of familial hypercholesterolemia in a French sample of ambulatory care patients: A retrospective longitudinal cohort study

• Published in: PloS one Vol. 16; no. 8; p. e0255345
• Main Authors: Ferrières, Jean, Banks, Victoria, Pillas, Demetris, Giorgianni, Francesco, Gantzer, Laurene, Lekens, Beranger, Ricci, Lea, Dova-Boivin, Margaux, Chauny, Jean-Vannak, Villa, Guillermo, Désaméricq, Gaelle
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 02.08.2021; Public Library of Science (PLoS)
• Subjects: Adult; Aged; Ambulatory Care; Angina pectoris; Atherosclerosis; Biology and Life Sciences; Cardiology; Cardiovascular disease; Care and treatment; Cholesterol; Cholesterol, LDL - blood; Cohort analysis; Diabetes; Diagnosis; Emergency medical services; Epidemiology; Family physicians; Female; France - epidemiology; Health risks; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use; Hypercholesterolemia; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - drug therapy; Hyperlipoproteinemia Type II - epidemiology; Hypertension; Kexin; Life Sciences; Lipids; Longitudinal Studies; Low density lipoprotein; Male; Management; Medical treatment; Medicine and Health Sciences; Middle Aged; Morbidity; Outpatients; Patients; People and Places; Pharmaceutical sciences; Pharmacology; Population; Prescription drugs; Proprotein Convertase 9; Proprotein convertases; Retrospective Studies; Santé publique et épidémiologie; Statins; Statistics; Subtilisin; France; United Kingdom > UK; Europe
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0255345

Untreated Familial Hypercholesterolemia (FH) leads to premature morbidity and mortality. In France, its epidemiology and management are understudied in ambulatory care. We described the clinical profile, pharmacological management, and clinical outcomes in a French sample of FH patients. This was a retrospective longitudinal study on patients from The Health Improvement Network (THIN®) database in France, between October 2016-June 2019. Patients ≥18 years, with probable/definite FH based on the Dutch Lipid Clinic Network (DLCN) criteria were included. Baseline characteristics, lipid profile, lipid-lowering therapy (LLT), low-density lipoprotein-cholesterol (LDL-C) goal achievement; and disease management at 6-month of follow-up were analyzed. 116 patients with probable (n = 70)/definite (n = 46) FH were included (mean age:57.8±14.0 years; 56.0% women; 9.5% with personal history of cardiovascular events); 90 patients had data available at follow-up. At baseline, 77.6% of patients had LDL-C>190 mg/dL, 27.6% were not receiving LLTs, 37.9% received statins alone, 20.7% statins with other LLTs, and 7.7% other LLTs. High-intensity statins were prescribed to 11.2% of patients, 30.2% received moderate-intensity statins, and 8.6% low-intensity statins. Only 6.0% of patients achieved LDL-C goal. At 6-month of follow-up, statins discontinuation and switching were 22.7% and 2.3%, respectively. None of the patients received proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors at baseline nor follow-up. Despite the existence of effective LLTs, FH patients are suboptimally-treated, do not achieve LDL-C goal, and exhibit worsened pharmacological management over time. Future studies with longer follow-up periods and assessment of factors affecting LDL-C management, including lifestyle and diet, are needed.