Patients' Attitudes Toward Detection of Heterozygous Familial Hypercholesterolemia

Andersen, Lars Vabbersgaard; Jensen, Henrik Kjærulf; Juul, Svend; Færgeman, Ole

doi:10.1001/archinte.1997.00440260117015

Cited by 37 publications

(31 citation statements)

References 31 publications

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“…2007). In our study, it was found that most people believed that anxiety would not be a barrier to genetic testing, whereas Andersen et al found that anxiety was expressed by 44% of the FH index cases and their relatives (Andersen et al 1997). …”

Section: Discussionmentioning

confidence: 52%

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A novel approach to screening for familial hypercholesterolemia in a large public venue

2016

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The primary aim of this study was to test the feasibility of a public health screening program to identify individuals at high risk of familial hypercholesterolemia through a novel screening approach at a large public venue. A fingerprick, non-fasting lipid panel was obtained, and a survey which consisted of 44 open-and close-ended questions divided into four sections: medical and family history of FH, opinions of cascade genetic testing, patient activation, and demographics was completed. A total of 971 participants met criteria and completed a cholesterol screen. In total, five individuals met either the Simon Broome Register or the Dutch Lipid Clinic Network criteria for possible familial hypercholesterolemia. Participants were generally positive towards genetic testing, and the vast majority listed they had no barriers to communication of genetic testing information to family members. However, the most common barrier listed was lack of communication skills. Our results suggest that a public health screening program for FH is viable at a large public venue. We argue that further research is needed to expand this study to a fully operational screening program.

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Section: Discussionmentioning

confidence: 52%

“…in their family (Andersen et al 1997). In a nationally representative sample of British residents, 69% of the sample was in favor of genetic testing for heart disease, and those participants with a family history of heart disease were even more interested in genetic testing (74%) (Sanderson et al 2004).…”

Section: Discussionmentioning

confidence: 99%

A novel approach to screening for familial hypercholesterolemia in a large public venue

2016

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“…13 However, existing cascade screening programmes for FH have shown little, if any, long-term detrimental effects upon participants' quality of life. 11,14,15 …”

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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“…133 Some young relatives prefer to have testing for the diagnosis of FH delayed, while others remain in a 'state of denial' and prefer not to be tested at all. 134,135 Screening also has the potential to lead to family discord, especially when children are asked by parents to avoid certain foods. The person conducting cascade testing should also be aware that there is debate about whether the probands should invite the relatives for testing or should provide the names of the relatives so that the screening programme can approach them for testing.…”

Section: Screening Relatives Of Fh Probandsmentioning

confidence: 99%

Diagnosis and screening for familial hypercholesterolaemia: finding the patients, finding the genes

Bhatnagar

2006

Ann Clin Biochem

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Familial hypercholesterolaemia (FH) is a genetic disorder in which the concentration of serum cholesterol is elevated from birth and leads to premature coronary heart disease. FH is commonly caused by a mutation in the LDL receptor, but mutations in other genes can lead to a phenotype similar to FH. FH exhibits marked phenotypic variability due to genetic, metabolic and environmental factors. The presence of tendon xanthomata is the characteristic clinical sign seen in many patients with FH, but they may also have other non-specific signs of lipid disorders such as corneal arcus and xanthelasmata. Premature vascular disease is apparent in many patients. The wide variety of mutations and phenotypic variability have made it difficult to establish definite diagnostic criteria, but three sets of clinical criteria commonly used are the Simon Broome criteria, the Dutch Lipid Clinic criteria and the American criteria. FH screening fits the Wilson and Jungner recommendations for validity of a screening programme. Screening could be carried out on a population basis, in a clinical setting or by application to relatives of probands. This latter approach, termed cascade testing, appears to be the more cost-effective compared with population screening and can be carried out using clinical criteria or genetic testing, or by a combination of both methods. Clinicians need to be made more aware of the clinical features of FH and how to diagnose it in order to increase the index of suspicion and instigate appropriate treatment early, with the aim of preventing premature coronary heart disease.

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Patients' Attitudes Toward Detection of Heterozygous Familial Hypercholesterolemia

Abstract: The results indicated that a substantial proportion of persons with heterozygous FH had some degree of anxiety. A small minority regretted that they were informed of the diagnosis of heterozygous FH, however, and a majority were in favor of family screening for heterozygous FH.

Cited by 37 publications

References 31 publications

A novel approach to screening for familial hypercholesterolemia in a large public venue

A novel approach to screening for familial hypercholesterolemia in a large public venue

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

Diagnosis and screening for familial hypercholesterolaemia: finding the patients, finding the genes

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