Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study

Isla, Leopoldo Pérez de; Alonso, Rodrigo; Muñiz-Grijalvo, Ovidio; Díaz‐Díaz, José Luis; Zambón, Daniel; Miramontes, José Pablo; Fuentes, Francisco; Diego, José Juan Gómez de; González-Estrada, Aurora; Mata, Nelva; Saltijeral, Adriana; Barreiro, Manuel; Tomàs, Marta; Andrés, Raimundo de; Argüeso, Rosa; Gotarredona, María Pilar Serrano; Herrero, S. Navarro; Palazon, R. J. Perea; Caralt, Teresa M. de; Centi, L.; Жилина, С. С.; Perez, S.; Padró, Teresa; Mata, Pedro

doi:10.1016/j.jacl.2018.04.003

Cited by 54 publications

(29 citation statements)

References 29 publications

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“…Apart from showing the highest reclassification power in the general population, CAC score was found to be superior in improving CV event prediction when added to the Framingham risk score in HeFH subjects [25]. It has also recently been shown that SAFEHE-ART-RE correlates with the CAC Score [26] and with other biological parameters such as circulating microvesicles that may represent surrogate biomarkers of coronary calcification in FH patients [27]. Confirmation of the contribution of CAC in the context of FH-specific CV risk algorithms is awaited in large populations.…”

Section: Other Markers or Predictors Of CV Risk In Hefh Patientsmentioning

confidence: 93%

SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia

Gallo

Charrière

Vimont³

et al. 2020

Atherosclerosis

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Section: Other Markers or Predictors Of CV Risk In Hefh Patientsmentioning

confidence: 93%

SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia

Gallo

Charrière

Vimont³

et al. 2020

Atherosclerosis

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“…Since publication of the aforementioned guidelines, there has been an exponential growth in published works on several aspects of FH [3]. This includes the following: new knowledge on population prevalence [6][7][8]; screening methods [3,5,13,21] including use of non-fasting samples [22]; the role of primary care in detection and treatment [23]; new diagnostic gene technologies and genetic testing protocols [24]; methods for risk re-stratification, including estimation of lipoprotein(a) [25][26][27][28] and non-invasive cardiovascular imaging [3,29,30]; screening and treatment of children [12,31,32]; the safety and tolerability of statins [33,34]; the efficacy and application of new therapies (eg. proprotein convertase subtilisin/kexin type 9 inhibitors); management of homozygous FH including use of lipoprotein apheresis [35][36][37]; comprehensive health economic evaluations [38,39]; organisation of services [3], clinical registries [40][41][42]; role of advocacy and patient support groups [43]; and, definitions of research programs [3,11,44].…”

Section: Exponential Growth Of Knowledge On Fh: Review Of Evidencementioning

confidence: 99%

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Watts

Sullivan

Hare

et al. 2021

Heart, Lung and Circulation

127

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Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.

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“…Therefore, assessment of subclinical atherosclerosis may be a valuable clinical tool for determining the ASCVD risk in asymptomatic FH patients. 59,60 It has been recommended as a key modifier that allows patients to be reclassified from high to very-high cardiovascular disease risk with subsequent implications in therapy. 61 The presence and degree of CAC predicts coronary events in asymptomatic, middle-aged FH patients treated with statins and this is partly mediated by associations with other risk factors, particularly the burden of LDL-C-years.…”

Section: Role Of Imaging In CV Risk Re-stratificationmentioning

confidence: 99%

<p>Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care</p>

Alonso¹,

Isla²,

Muñiz-Grijalvo³

et al. 2020

VHRM

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Familial hypercholesterolemia (FH) is a frequent disorder associated with premature atherosclerotic cardiovascular disease. Different clinical diagnosis criteria are available, and cost of genetic testing has been reduced in the last years; however, most cases are not diagnosed worldwide. Patients with FH are at high cardiovascular risk and the risk can be reduced with lifelong lifestyle and pharmacological treatment. Statins and ezetimibe are available as generic drugs in most countries reducing the cost of treatment. However, the use of high-intensity statins combined with ezetimibe and PCSK9 inhibitors, if necessary, is low for different reasons that contribute to a high number of patients not reaching LDL-C targets according to guidelines. On the other hand, cardiovascular risk varies greatly in families with FH; therefore, risk stratification strategies including cardiovascular imaging is another element to consider for improving care and management of FH. There are numerous barriers depending on the awareness, knowledge, perception of risk, management and care of patients living with FH that impact in the diagnosis and treatment of the disorder. In this contemporary review, we analyze different barriers in the diagnosis and care of patients to improve patients' care and prevention of atherosclerotic cardiovascular disease and describe recent advances and strategies to improve the gaps in the care of FH, including global collaboration and advocacy.

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Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study

Cited by 54 publications

References 29 publications

SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia

SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

<p>Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care</p>

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