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. 2021 Aug 2;16(8):e0255345.
doi: 10.1371/journal.pone.0255345. eCollection 2021.

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

Jean Ferrières  1 , Victoria Banks  2 , Demetris Pillas  2 , Francesco Giorgianni  2 , Laurene Gantzer  3 , Beranger Lekens  3 , Lea Ricci  4 , Margaux Dova-Boivin  4 , Jean-Vannak Chauny  4 , Guillermo Villa  5 , Gaelle Désaméricq  4
Affiliations

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

Jean Ferrières et al. PLoS One. .

Abstract

Background and aims: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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Conflict of interest statement

I have read the journal’s policy and the authors of this manuscript have the following competing interests: FJ received lecture fees from the companies Amgen, AstraZeneca, MSD, Sanofi and Servier. LG and BL have no conflict of interest to declare. PD, GF, RL, DBM, CJV, VG and DG own stock in and are fulltime employee of Amgen. BV was a contract worker at Amgen. LG and BL are full-time employees of GERS SAS. This does not alter our adherence to PLOS ONE policies on sharing data and materials.

Figures

Fig 1
Fig 1. Flowchart of study subjects.
LDL-C, Low-density lipoprotein cholesterol; LLT, Lipid-lowering therapy; DLCN, Dutch Lipid Clinic Network; FH, Familial hypercholesterolemia. aAn unlikely FH refers to a DLCN score of 0 to 2 points. bA possible FH refers to a DLCN score of 3 to 5 points. cA probable FH refers to a DLCN score of 6 to 8 points. dA definite FH refers to a DLCN score of above 8 points.
Fig 2
Fig 2. Lipid panel of study subjects at baseline.
Min, Minimum; Max, Maximum; Q, Quartile. aNumber of days to index-date: For all patients: Min: 0; Q1: 5; Q2: 43; Q3: 287; Max: 726; For patients with Definite FH: Min: 0; Q1: 8.5; Q2: 51.5; Q3: 333.5; Max: 687; For patients with Probable FH: Min: 0; Q1: 5; Q2: 25; Q3: 229; Max: 726. bNumber of days to index-date: For all patients: Min: 0; Q1: 5.5; Q2: 43; Q3: 265.5; Max: 726; For patients with Definite FH: Min: 0; Q1: 15; Q2: 54; Q3: 347; Max: 687; For patients with Probable FH: Min: 0; Q1: 5; Q2: 22; Q3: 199; Max: 726. cNumber of days to index-date: For all patients: Min: 0; Q1: 6; Q2: 47.5; Q3: 310.5; Max: 726; For patients with Definite FH: Min: 0; Q1: 15; Q2: 84; Q3: 347; Max: 709; For patients with Probable FH: Min: 0; Q1: 5; Q2: 25; Q3: 297; Max: 726. dThe index date is the date of the first entry of the DLCN score of the patient by the consented physician into the database.
Fig 3
Fig 3. LLT change status of patients with definite or probable FH at 6-month of follow-up.
Discontinued defined as any LLT prescription at index date but no LLT prescription at 6-month of follow-up. Switching defined as different LLT/combination of LLT prescribed during follow-up than the LLT prescribed at index date. Increase defined as one or more new LLT started during follow-up with index drugs also still continued. Decrease defined as one or more LLT at index date no longer taken at follow-up, but one or more LLT at index date still continued. No change defined as no change in LLT drugs prescribed between index date and follow-up.
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