A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)

Descamps, Olivier; Caenegem, Olivier Van; Hermans, Michel P.; Balligand, Jean‐Luc; Beauloye, Christophe; Bondue, Antoine; Carlier, Stéphane; Castermans, Emilie; Chenot, Fabien; Claeys, Marc J.; Block, Christophe De; Leener, Anne De; Meester, A. De; Demeure, Fabian; Raedt, Herbert De; Desmet, Walter; Elegeert, Ivan; Guillaume, M.; Hoffer, E; Kacenelenbogen, Raymond; Lancellotti, Patrizio; Langlois, Michel; Leone, Attilio; Mertens, Ann; Paquot, Nicolas; Vanakker, Olivier; Vanoverschelde, Jean–Louis; Verhaegen, Ann; Vermeersch, Pieter; Wallemacq, Caroline; Rietzschel, Ernst

doi:10.1016/j.atherosclerosis.2018.05.037

Cited by 9 publications

(9 citation statements)

References 29 publications

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“…Research to determine the clinical threshold for FH genetic testing are also underway in other regions of the United Kingdom; the Wales FH service recently developed criteria for selecting patients for FH genetic testing by modifying DLCN scoring criteria and determined a score of ≥6 to be the proper threshold to offer FH genetic testing to the Welsh population [56]. In addition, the The BELgium Familial Hypercholesterolaemia Strategy (BEL-FaHST) recently indicated that genetic testing is not recommended in cases of definite FH per DLCN criteria (if >8) [57].…”

Section: Discussionmentioning

confidence: 99%

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

Hendricks‐Sturrup

Clark-LoCascio

2020

JPM

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Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that affects an estimated 1/250 persons in the United States and abroad. FH is hallmarked by high low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease. This review summarizes recent global evidence showing the utility of FH genetic testing across diverse populations. Clinical and other qualitative outcomes following FH genetic testing were improved FH diagnosis, treatment initiation or continued treatment, treatment modification, improved total or LDL cholesterol levels, education on lifestyle management, and genetic counseling. This summary of evidence should be considered by those seeking overall evidence and knowledge gaps on the utility of FH genetic testing from a global perspective and for certain ethnic and age populations. These findings can be used to inform insurance policies and coverage decisions for FH genetic testing, policy recommendations to reduce the clinical and public health burden of FH, clinical practice and guidelines to improve the management of FH populations, and ongoing research involving FH genetic testing. We conclude that further investigations are needed to examine: (1) non-clinical outcomes following FH genetic testing; (2) patient-reported outcomes following FH genetic testing to convey patient experiences, values, and goals; and (3) clinical outcomes following FH genetic testing in non-Caucasian and pediatric populations in the United States and abroad.

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Section: Discussionmentioning

confidence: 99%

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

Hendricks‐Sturrup

Clark-LoCascio

2020

JPM

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“…The diagnosis of FH in relatives was thus based only on clinical and biological data using the DLCN criteria [1] as well as the age-specific LDL-C diagnostic cut-offs of the MEDPED FH criteria [9]. As previously published [10], the MEDPED FH criteria can be readily used in Belgium as the distribution of LDL-C levels in the general Belgian population (131 ± 34 mg/dl) [11] is almost identical to that of the general US population (130 ± 31 mg/dl). We considered various categories of likelihood of FH amongst the relatives: those with DLCN above 8 (DLCN definite FH), those with DLCN 6 and 8 (DLCN probable FH), those with positive MEDPED FH criteria (MEDPED probable FH) whereas the remaining with DLCN < 6 were considered to have no FH.…”

Section: Predesigned Diagnosis Procedures For Fhmentioning

confidence: 99%

“…Recently, Brian Starr et al [12] published age and gender-specific LDL-C diagnostic cut-offs which are based on the same principles than the classical MEDPED FH criteria but give more balanced specificity and sensitivity (significantly higher). To adjust for the difference in mean LDL-C levels between the population of the Netherlands and Belgium, we refered to different sets of published epidemiological data of LDL-C values (median) in the Belgian cohort of the the Asklepios Study [11] and in the Netherlands [10,13] (Supplementary Table 1). These "BEL-MEDPED FH cutoffs" were applied to the first relatives in a cascade screening manner: we applied it first to the first-degree relatives of the IP, and thereafter to the first-degree relatives of the "affected" first-degree relatives and so on.…”

Section: Establishment Of Rapid Rule-out Criteria For Fhmentioning

confidence: 99%

Feasibility and cost of FH cascade screening in Belgium (BEL-CASCADE) including a novel rapid rule-out strategy

et al. 2020

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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 cutoffs , easily applicable by a nurse with a single blood sample, might further improve the sensitivity of detecting FH within families.

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“…In Denmark only about 12 % of the individuals with FH have been identified (4). In other countries elaborate screening interventions have raised the rate of identified FH patients significantly (4,7,8).…”

Section: General Population Study Familial Hypercholesterolaemia-causmentioning

confidence: 99%

Screening for potential familial hypercholesterolaemia in general practice: an observational study on prevalence and management

Mülverstedt

Hildebrandt²,

Prescott

et al. 2020

BJGP Open

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Background: Familial Hypercholesterolaemia (FH) is a common genetic disorder causing premature cardiovascular disease (CVD). The estimated prevalence of probable or definite FH according to the Dutch Lipid Clinic Network (DLCN) Criteria for FH is 1:200-250 individuals. In Denmark approximately 12% are identified. Aim: To provide knowledge of the prevalence and management of FH in general practice. Design and setting: A collaboration between six General Practitioners and the department of cardiology, Bispebjerg hospital. Methods: We screened 9,652 patient records for hypercholesterolaemia. All patients with an LDL-C ≥ 5.0 mmol/L were included in the study population and their record were investigated in order to perform a diagnostic score according to the DLCN criteria. Results: 2,382 individuals had a lipid measurement available, and 236 of those had an LDL-C ≥ 5.0 mmol/L. In total 34 individuals were found to have probable or definite FH (DLCN score ≥ 5). Only three individuals had been diagnosed and treated with lipid lowering therapy. Of 236 individuals with high LDL-C only 25 individuals met their treatment target. By excluding patients with signs of secondary hypercholesterolaemia we established a subgroup of 115 individuals with potential primary hypercholesterolaemia. Among those, 21 individuals were found to have probable or definite FH (1:114 individuals). Conclusion: Our study shows that there is a massive lack of recognition of FH in general practice. Despite a measured high LDL-C, the diagnosis is rarely made and only few patients are treated accordingly. Of the patients undergoing treatment, only a few reaches their treatment target.

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A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)

Cited by 9 publications

References 29 publications

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

Feasibility and cost of FH cascade screening in Belgium (BEL-CASCADE) including a novel rapid rule-out strategy

Screening for potential familial hypercholesterolaemia in general practice: an observational study on prevalence and management

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