Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors

Alonso, Rodrigo; Mata, Nelva; Castillo, Sergio; Fuentes, Francisco; Sáenz, Pedro Luis Ruiz; Muñiz, Ovidio; Galiana, Jesús; Figueras, R.; Palencia, José Luis Díaz; Gómez-Enterria, P.; Mauri, Marta; Piedecausa, Mar; Irigoyen, Luis; Aguado, Rocío; Mata, Pedro

doi:10.1016/j.atherosclerosis.2007.12.024

Cited by 140 publications

(80 citation statements)

References 31 publications

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“…Among them Lp(a) has been associated with early CHD also in FH (18) and can be used for risk reclassification (19). Contrarily, while a null mutation has been associated with an increased prevalence of premature CVD and recurrence of CV events compared to a defective LDLR mutation (20), no significant associations were found between mutation type and aortic/carotid plaque presence (21).…”

mentioning

confidence: 99%

Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia

Gallo

Giral

Carrié

et al. 2017

Journal of Clinical Lipidology

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mentioning

confidence: 99%

Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia

Gallo

Giral

Carrié

et al. 2017

Journal of Clinical Lipidology

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“…43 The mean PCVD-free survival time in those with null mutations was 51-53 years, in those with missense mutations was 58 years and in those carrying defective mutations was 53 years (p < 0.01). 43,95 Taylor and colleagues 37 reported a similar prevalence of severe mutations across study participants with a clinical diagnosis of definite FH, possible FH and also unclassified FH.…”

Section: Other Relevant Factorsmentioning

confidence: 93%

“…84 A null mutation has been identified as one of the important risk factors associated with PCVD in FH patients. 43,95 A significantly higher risk of PCVD, recurrence of cardiovascular events and family history of PCVD was reported in patients carrying null mutations compared with patients with defective mutations. 95 The relative risk of PCVD in patients with a null mutation was 3.1 times higher than that in patients with a missense mutation.…”

Section: Other Relevant Factorsmentioning

confidence: 99%

“…43,95 A significantly higher risk of PCVD, recurrence of cardiovascular events and family history of PCVD was reported in patients carrying null mutations compared with patients with defective mutations. 95 The relative risk of PCVD in patients with a null mutation was 3.1 times higher than that in patients with a missense mutation. 43 The mean PCVD-free survival time in those with null mutations was 51-53 years, in those with missense mutations was 58 years and in those carrying defective mutations was 53 years (p < 0.01).…”

Section: Other Relevant Factorsmentioning

confidence: 99%

See 1 more Smart Citation

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

Sharma

Boyers²,

Boachie³

et al. 2012

Health Technol Assess

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An electronic version of this title, in Adobe Acrobat format, is available for downloading free of charge for personal use from the HTA website (www.hta.ac.uk). A fully searchable DVD is also available (see below).Printed copies of HTA journal series issues cost £20 each (post and packing free in the UK) to both public and private sector purchasers from our despatch agents.Non-UK purchasers will have to pay a small fee for post and packing. For European countries the cost is £2 per issue and for the rest of the world £3 per issue. How to order:-fax (with credit card details) -post (with credit card details or cheque) -phone during office hours (credit card only).Additionally the HTA website allows you to either print out your order or download a blank order form. Contact details are as follows:Synergie UK (HTA Department) Digital House, The Loddon Centre Wade Road Basingstoke Hants RG24 8QW Email: orders@hta.ac.uk Tel: 0845 812 4000 -ask for 'HTA Payment Services' (out-of-hours answer-phone service) Fax: 0845 812 4001 -put 'HTA Order' on the fax header Payment methods Paying by chequeIf you pay by cheque, the cheque must be in pounds sterling, made payable to University of Southampton and drawn on a bank with a UK address.Paying by credit card You can order using your credit card by phone, fax or post. SubscriptionsNHS libraries can subscribe free of charge. Public libraries can subscribe at a reduced cost of £100 for each volume (normally comprising 40-50 titles). The commercial subscription rate is £400 per volume (addresses within the UK) and £600 per volume (addresses outside the UK). Please see our website for details. Subscriptions can be purchased only for the current or forthcoming volume. How do I get a copy of HTA on DVD?Please use the form on the HTA website (www.hta.ac.uk/htacd/index.shtml). HTA on DVD is currently free of charge worldwide.The website also provides information about the HTA programme and lists the membership of the various committees. HTA NIHR Health Technology Assessment programmeThe Health Technology Assessment (HTA) programme, part of the National Institute for Health Research (NIHR), was set up in 1993. It produces high-quality research information on the effectiveness, costs and broader impact of health technologies for those who use, manage and provide care in the NHS. 'Health technologies' are broadly defined as all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long-term care. The research findings from the HTA programme directly influence decision-making bodies such as the National Institute for Health and Clinical Excellence (NICE) and the National Screening Committee (NSC). HTA findings also help to improve the quality of clinical practice in the NHS indirectly in that they form a key component of the 'National Knowledge Service' . The HTA programme is needs led in that it fills gaps in the evidence needed by the NHS. There are three routes to the start of projects. First is the commissioned route. Suggestions for researc...

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“…Over 1,000 mutations in LDLR have been identified in FH patients [10]. There is evidence that null mutations in LDLR are associated with a more severe phenotype [11,12]. It has been estimated that mutations in APOB account for approximately 5.5 % of FH cases, while mutations in PCSK9 account for approximately 1.5 % [10].…”

Section: Molecular Geneticsmentioning

confidence: 99%

The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia

Sturm

2014

Curr Genet Med Rep

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Familial hypercholesterolemia (FH) is the most common inherited cause of premature coronary heart disease and leads to significant morbidity and mortality. Genetic counselors are specialized health care professionals with advanced degrees and training in both medical genetics and psychosocial counseling. FH patients and their families require focused education regarding the heritable nature of their disease, the risk to family members, the necessity of cascade screening, and the availability of genetic testing. Patients and families may also benefit from additional services genetic counselors provide, such as psychosocial support and other resources. All of these services are well-established components of the genetic counseling process. Therefore, genetic counselors can serve as a valuable resource to FH patients, their families, and the multidisciplinary team of clinicians providing care for these patients.

show abstract

Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors

Cited by 140 publications

References 31 publications

Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia

Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia

Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation.

The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia

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