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Abstract
Background
Familial hypercholesterolaemia (FH) is underdiagnosed in most countries. We report our first experience from a national pilot project of cascade screening in relatives of FH patients.
Methodology
Participating specialists recruited consecutive index patients (IP) with Dutch Lipid Clinic Network (DLCN) score ≥6. After informed consent, the relatives were visited by the nurses to collect relevant clinical data and perform blood sampling for lipid profile measurement. FH diagnosis in the relatives was based on the DLCN and/or MEDPED FH (Make-Early-Diagnosis-to-Prevent-Early-Deaths-in-FH) criteria.
Results
In a period of 18 months, a total of 127 IP (90 with definite FH and 37 with probable FH) were enrolled in 15 centres. Out of the 270 relatives visited by the nurses, 105 were suspected of having FH: 31 with DCLN score >8, 33 with DLCN score 5-8 and 41 with MEDPED FH criteria. In a post-hoc analysis, another set of MEDPED FH criteria established in the Netherlands and adapted to Belgium allowed to detect FH in 51 additional relatives.
Conclusion
In a country with no national FH screening program, our pilot project demonstrated that implementing a simple phenotypical FH cascade screening strategy using the collaboration of motivated specialists and two nurses, allowed to diagnose FH in 127 index patients and an additional 105 of their relatives over the two-year period. Newly developed MEDPED FH cut-offs, easily applicable by a nurse with a single blood sample, might further improve the sensitivity of detecting FH within families.
Acknowledgments
We thank the nurses as well as the index patients who participate to this study and collaborate by their effort in recruiting the relatives. We also thank doctors Ides Colin and Pascal Godart for participating to this study.
Disclosure statement
The authors have received lecture honoraria, consultancy fees and/or research funding from Actelion (J.D.S., A.B., I.E.), Amgen (O.S.D., E.R.R., A.M., I.B., H.V., G.M., S.C., J-P.L., I.E.), Astra Zeneca (O.S.D., A.M., I.B., H.V., F.C., F.L., G.M., S.C., I.E.), Bayer (A.B., I.E.), Boehringer Ingelheim (E.R.R., A.M., I.B., H.V., F.L., G.M., A.B., J-P.L., I.E.), Boston Scientific (S.C.), Bristol-Myers Squibb (J-P.L.), Daiichi-Sankyo (I.B.), Danone (O.S.D., J-P.L.), Eurogenerics (O.S.D.), Fresenius Medical Care (O.S.D.), Eli Lilly (A.M., F.L.), Johnson & Johnson (A.M.), Merck Sharp & Dome (O.S.D., E.R.R., A.M., J.D.S., F.L., M.G.), Menarini (J-P.L., I.E.), Mundi Pharma (F.L.), Mylan (O.S.D.), Novartis (E.R.R., A.M., I.B., A.F., H.V., F.C., G.M., P.V.), Novo-Nordisk (E.R.R., A.M., I.B., F.L.), Sandoz (I.B.) Sanofi-Aventis/Regeneron (O.S.D., E.R.R., J.D.S., A.M., I.B., H.V., F.L., G.M., S.C., A.B., J-P.L., I.E., M.G.), Servier (O.S.D., J-P.L., I.E.), Teva (E.R.R.).