Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

Neil, H. A. W.; Huxley, Rachel R.; Matthews, Daniel R.; Humphries, Steve E.

doi:10.1136/bmj.321.7254.148

Cited by 170 publications

(113 citation statements)

References 4 publications

(4 reference statements)

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“…FH is an autosomal dominant disease, which manifests as an increase in blood levels of low density lipoprotein (LDL) cholesterol. The high atherogenic LDL cholesterol level is associated with an earlier than average onset of coronary events, and young people who have FH (<40 years) have a nearly 100 times increased risk of fatal heart attack (Neil et al 2000;Marks et al 2006). Clinical diagnosis is based upon a combination of physical and clinical features including: raised levels of LDL cholesterol, a significant family history of early onset cardiovascular disease, and the presence of tendon xanthomas (cholesterol deposits) (the Simon Broome Criteria (DeMott et al 2008)).…”

Section: Introductionmentioning

confidence: 99%

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

et al. 2011

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Familial DNA cascade screening for familial hypercholesterolemia (FH) has recently been introduced in Scotland. This study investigated index patients' experiences of DNA testing and mediating cascade screening. Thirty-eight patients with a clinical diagnosis of definite or possible FH who had undergone DNA testing in the lipid clinic took part in semi-structured qualitative interviews.All patients were positive about DNA screening being undertaken by familiar and trusted clinicians within the lipid clinic. Most patients had already cascaded close relatives for serum cholesterol testing following their attendance at the lipid clinic. Identified mutation carriers who had attended the genetics clinic (n=15) for a cascading appointment described finding this consultation helpful because it identified other at-risk family members and provided them with tailored information for their relatives. Participants who expressed a preference said they favoured indirect (patient-mediated) methods of cascading as they considered indirect approaches to be less threatening to family members than direct clinical contact. We conclude that DNA screening and indirect familial cascading is perceived as highly acceptable to index patients with FH.

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Section: Introductionmentioning

confidence: 99%

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

et al. 2011

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“…3 With an estimated prevalence of 1 in 500, approximately 110 000 people in the United Kingdom are thought to have FH, although at least 75% of this group remain undiagnosed. 4 Preventative treatment with HMG-CoA reductase inhibitors (statins), in combination with a healthy lifestyle, is effective in delaying or preventing the onset of coronary heart disease. 5,6 Effective primary prevention, however, requires early diagnosis.…”

Section: Familial Hypercholesterolaemia (Fh) Cascade Screeningmentioning

confidence: 99%

Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Newson

Humphries

2005

Eur J Hum Genet

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Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as Familial Hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a person's life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be responsible for contacting his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method of contact already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria which, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives.

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“…1 FH leads to high concentrations of LDL-cholesterol from birth and this causes increased risk of premature coronary heart disease (CHD), such that roughly half of men with FH, if untreated, will have developed clinically evident CHD by the age of 55 years. 2 Affected women from the same families typically also develop premature CHD about nine years later than their affected male relatives.…”

Section: Introductionmentioning

confidence: 99%

“…2 Only about 15% of the predicted FH patients in the UK are currently being treated in lipid clinics, 3 with the majority of these being older individuals. 1 Thus most people in the UK with FH are undiagnosed or only diagnosed after their first coronary event, but early detection and treatment with hydroxymethylglutaryl-coenzyme A (HMG CoA) reductase inhibitors (statins) can reduce coronary morbidity and mortality, 4,5 making the identification of affected individuals crucially important.…”

Section: Introductionmentioning

confidence: 99%

Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project

et al. 2008

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Background: Familial hypercholesterolaemia (FH) is an autosomal co-dominant disorder which is relatively common, leads to high levels of LDL-cholesterol and if untreated to early coronary heart disease. An audit of current practice at National Health Service Trusts in England was undertaken to determine whether FH patients meet the diagnostic criteria for FH; are being offered appropriate advice and treatment; and to what extent their families are contacted and offered testing for the disorder. Methods: Medical records of known FH patients (over 18 years of age and diagnosed before 31 December 2003) were accessed to obtain information on diagnosis, treatment and family tracing. Results: The records of 733 FH patients were examined, 79% met the UK 'Simon Broome' register criteria for the diagnosis of definite or possible FH. Analyses showed that patients were usually offered appropriate advice and treatment, with 89% being on a statin. However, the audit indicated a high variability in family tracing between the sites, with significant differences in the frequency of inclusion of a family pedigree in the notes (range 1-71%, mean 35%); the general practitioner (GP) being advised that first-degree relatives should be tested (range 4-52%, mean 27%); and the proportion of relatives contacted and tested (range 6-50%, mean 32%). Conclusion: FH patients are well cared for in lipid clinics in England, are being given appropriate lifestyle advice and medication, but an increase in recording of LDL-cholesterol levels may lead to improvements in their management. Practice in family tracing appears to vary widely between clinics.

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Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

Abstract: In heterozygous familial hypercholesterolaemia the cumulative risk of a fatal or non-fatal coronary event by the age of 60 without effective treatment is at least 50% in men and about 30% in women.

Cited by 170 publications

References 4 publications

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project

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