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A service evaluation: impact of nurse-led regional familial hypercholesterolaemia service on a hospital adult lipid clinic

12 November 2020
Volume 29 · Issue 20


The authors evaluated the impact of genetic screening for familial hypercholesterolaemia (FH) in a lipid clinic cohort of patients with definite and possible FH as defined by the Simon Broome Register (SBR) criteria. Methods: Patients with a lipid clinic diagnosis of definite and possible FH based on the SBR criteria were referred to a nurse-led regional service for FH genetic testing. Findings: 140 patients were referred for genetic testing. Six had SBR-definite FH due to the presence of tendon xanthomata and 134 had SBR-possible FH. A monogenic FH mutation was detected in all six patients (100%) with SBR-definite FH and in 34 (25%) of patients with possible FH. Conclusion: The appropriate use of molecular genetics in a lipid clinic will greatly facilitate the management of hyperlipidaemia and cardiovascular risk since the management of FH patients (National Institute for Health and Care Excellence (NICE) Clinical Guideline 71) is different from non-FH patients (NICE Clinical Guideline 181).

Familial hypercholesterolaemia (FH) is a disorder of lipoprotein metabolism characterised by raised circulating concentrations of low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease (Nordestgaard et al, 2013; Barkas et al, 2015; Navar-Boggan et al, 2015). It is caused by autosomal co-dominant mutations in genes encoding mostly for low-density lipoprotein receptors (LDLR), uncommonly for apolipoprotein B (APOB) and rarely for proprotein convertase subtilisin/kexin type 9 (PCSK9). Very rarely a recessive form of FH is caused by mutations in low-density lipoprotein receptor adaptor protein 1 (LDLRAP1). Other phenotypic FH cases are thought to be either due to polygenic mutations or unidentified monogenic mutations (Henderson et al, 2016).

Until the advent of genetic testing, diagnosis of FH was clinical. The integration of genetic testing into routine health practice has meant that these clinical diagnoses can now be confirmed or refuted by identifying reported pathogenic mutations.

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