Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

Civeira, Fernando; Ros, Emilio; Jarauta, Estíbaliz; Plana, Núria; Zambón, Daniel; Puzo, José; Esteban, Juan Pablo Martínez de; Ferrando, Juan; Zabala, S.; Almagro, Fátima; Gimeno, José Antonio Mejías; Masana, Luís; Pocovı́, Miguel

doi:10.1016/j.amjcard.2008.06.056

Cited by 158 publications

(119 citation statements)

References 20 publications

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“…In addition, the range of plasma LDL cholesterol levels in FH overlaps with that of people with non-genetic polygenic hypercholesterolemia. 12,25) On the other hand, tendon xanthomas are strongly associated with a genetic diagnosis and highly specific for FH patients. 12) Achilles tendon xanthomas in particular have been used as one of the criteria for the clinical diagnosis of FH in JAS and the Simon Broome Register because of their high sensitivity and specificity.…”

Section: Discussionmentioning

confidence: 99%

“…12,25) On the other hand, tendon xanthomas are strongly associated with a genetic diagnosis and highly specific for FH patients. 12) Achilles tendon xanthomas in particular have been used as one of the criteria for the clinical diagnosis of FH in JAS and the Simon Broome Register because of their high sensitivity and specificity. 1,26) A strongly positive correlation was observed between ATT and cholesterol-year scores in FH.…”

Section: Discussionmentioning

confidence: 99%

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Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

et al. 2017

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SummaryHeterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. We estimated the prevalence of heterozygous FH by measuring Achilles tendon thickness (ATT) in patients with acute coronary syndrome (ACS).A total of 359 patients suffering from ACS were enrolled in this multicenter registration study. Heterozygous FH was defined according to the diagnostic criteria proposed by the Japan Atherosclerosis Society. After excluding 63 patients because of missing ATT data or plasma triglyceride levels that were 4.5 mmol/L or more, 296 patients were eligible for inclusion in the study. The number of patients with ATT of 9 mm or more was 53 (17.9%). They were significantly younger and had significantly higher LDL cholesterol levels than patients with an ATT less than 9 mm. The prevalence of heterozygous FH was 5.7% (1/17.5) and more prominent in younger patients who were less than 60 years old (7.8%). In patients with ATT of 9 mm or more, approximately 1 in 3.5 fulfilled the criteria for heterozygous FH.We demonstrated the usefulness of measuring ATT by radiography and the high prevalence of heterozygous FH in patients with ACS in Japan, especially in younger patients who were less than 60 years old. (Int Heart J 2017; 58: 88-94)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

et al. 2017

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“…However, increasing the sensitivity and specificity of diagnosis of FH requires use of DNA testing Minhas et al 2009). DNA screening facilitates diagnosis of younger pre-symptomatic patients and children in particular (Civeira et al 2008;Finnie 2010). DNA testing in combination with familial cascade screening is seen as a very cost-effective way of reducing premature death from cardiovascular disease (Marks et al 2002;Finnie 2010).…”

Section: Introductionmentioning

confidence: 99%

“…DNA testing in combination with familial cascade screening is seen as a very cost-effective way of reducing premature death from cardiovascular disease (Marks et al 2002;Finnie 2010). Familial cascade DNA screening is now a clinical reality in Spain (Civeira et al 2008), Norway (Leren 2004), the Netherlands, Scotland and Wales and has been recommended in England (DeMott et al 2008;NICE 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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“…DNA testing for FH mutations is now available, and this can be used to confirm pre-existing clinical diagnoses (diagnostic testing) and identify (younger) presymptomatic individuals as carrying a mutation (predictive testing) (Civeira et al 2008;van Aalst-Cohen et al 2006). It has been argued that familial screening for FH may be a costeffective way of reducing premature death from CVD, hence DNA cascade screening programmes have been implemented in some European countries and some parts of the UK (Finnie 2010;Marks et al 2002).…”

Section: Familial Hypercholesterolemiamentioning

confidence: 99%

A qualitative study of patients’ perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH)

et al. 2016

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For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH. Data were analysed thematically. While interviewees regarded DNA testing as an unexceptional event, it was seen as a positive innovation because it confirmed that their family carried a particular disorder, offered an aetiological explanation for their hypercholesterolemia and provided information about their own and family members' future risks. From the patient perspective, the main benefit of molecular diagnosis lies in its ability to provide information which allows (younger) family members to access genetic screening and, thus, timely treatment. The implications for future developments in genetic services and the need to investigate further the provision of molecular testing in mainstream specialties are briefly discussed.

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Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

Cited by 158 publications

References 20 publications

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

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

A qualitative study of patients’ perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH)

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