Awareness, diagnosis and treatment of heterozygous familial hypercholesterolemia (HeFH) – Results of a US national survey

Block, Robert C.; Bang, Matthew; Peterson, Amy L.; Wong, Nathan D.; Karalis, Dean G.

doi:10.1016/j.jacl.2021.09.045

Cited by 10 publications

(6 citation statements)

References 21 publications

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“…In individuals with no comorbidities, high-intensity statins were used less frequently (28-44%) ( 45 ). This highlights previously reported suboptimal treatment in individuals who do not have identifiable comorbidities and may reflect a knowledge gap about FH diagnosis ( 22 , 54 ), in addition to evidence of an inverted U-shaped curve showing younger and older individuals were not treated as aggressively as recommended by guidelines ( 28 ).…”

Section: Discussionsupporting

confidence: 59%

“…Consistent with other studies, our results show that, in the absence of comorbidities, most patients receive primary care rather than specialty care ( 7 , 36 ), regardless of the diagnostic criteria used. Although primary care is considered an optimal setting for FH screening ( 36 , 44 , 52 ), knowledge and awareness of FH among PCPs are limited ( 42 , 53 , 54 ). Accurate manual screening for all DLCN or AHA criteria in the entire primary care population is not feasible and guidelines recommend FH genotype screening only for certain populations ( 26 , 27 ).…”

Section: Discussionmentioning

confidence: 99%

“…Geneotype testing was limited in this study and without full genetic analysis of the entire study cohort, we could not accurately differentiate between monogenic and polygenic FH ( 20 , 74 ). Other studies report difficulties ( 15 ) in contacting patients with FH, partly due to a lack of awareness among clinicians and patients of the need for comprehensive assessment ( 6 , 7 , 26 , 37 , 54 ). We currently are expanding access to genetic testing for individuals who meet FH clinical criteria using the hybrid diagnostic criteria present in our algorithm (ie, in groups 1, 2, or 3).…”

Section: Discussionmentioning

confidence: 99%

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Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model

Eid

Sapp

Wendt

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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Background Familial hypercholesterolemia (FH) confers a greatly increased risk for premature cardiovascular disease (CVD), but remains very under-diagnosed and under-treated in primary care populations. We assessed whether using a hybrid model consisting of two existing FH diagnostic criteria coupled with electronic medical record (EMR) data, would accurately identify patients with FH in a midwest US metropolitan healthcare system. Methods and Results We conducted a retrospective, records-based, cross-sectional study using datasets from unique EMRs of living patients. Using Structured Query Language (SQL) to identify components of two currently approved FH diagnostic criteria, we created a hybrid model to identify individuals with FH. Of 264 264 records analyzed, between 794 and 1571 patients were identified as having FH based on the hybrid diagnostic model, with a prevalence of 1:300 to 1:160. These patients had a higher prevalence of premature coronary artery disease (CAD) (38%-58%) compared with the general population (1.8%) and compared with those having a high CAD risk, but no FH (10%). Although most patients were receiving lipid-lowering therapies (LLT), only 50% were receiving guideline-recommended high-intensity LLT. Conclusion Using the hybrid model, we identified FH with a higher clinical and genetic detection rate compared with using standard diagnostic criteria, individually. Statin and other LLT use were suboptimal and below guideline recommendations. Because FH under-diagnosis and under-treatment are due partially to the challenges of implementing existing diagnostic criteria in a primary care setting, this hybrid model potentially can improve FH diagnosis and subsequent early access to appropriate treatment.

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Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model

Eid

Sapp

Wendt

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…This result suggested that not only should cardiologists pay attention to FH disease, but doctors from other departments also need to know how to diagnose and treat FH. A study found that the awareness, diagnosis and treatment of FH in cardiologists and primary care physicians were still insufficient, suggesting that more education and training are needed for clinical doctors ( 16 ). Systemic atherosclerosis and inflammation in FH patients are more serious than those in normal people, which causes the incidence of cerebral infarction and peripheral vascular atherosclerosis to be higher in these populations ( 17 , 18 ).…”

Section: Discussionmentioning

confidence: 99%

Screening and clinical characteristics analysis of familial hypercholesterolemia in a tertiary public hospital

Shen

Luo

et al. 2023

Front. Cardiovasc. Med.

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Background and aimsFamilial hypercholesterolemia (FH) is becoming a global burden. However, it remains underdiagnosed and undertreated worldwide. This study aimed to observe the screening rate of FH patients and department distribution among hospitalized patients using different diagnostic criteria.MethodsA total of 45,410 inpatients with LDL-C ≥3.5 mmol/L between 2008 and 2019 were included from The Second Affiliated Hospital of Nanchang University. Inpatients are diagnosed and divided into groups by Dutch Lipid Clinic Network (DLCN) criteria, Chinese-modified DLCN criteria and Chinese expert consensus (CEC) criteria.ResultsThere were 172, 1,076 and 115 inpatients included in the DLCN group, Chinese-modified DLCN group and CEC group, respectively (screening rates: 0.38%, 2.37% and 0.25%). These FH patients had a very high risk of atherosclerotic cardiovascular disease (ASCVD) (55.7%–74.4%), especially in the DLCN group and CEC group (70.4%–74.4%). More than half of the patients were in the Department of Cardiology, and other high-risk departments included Neurology, Nephrology, Vascular Surgery, Otolaryngology & Head Neck Surgery and Traditional Chinese Medicine (24.35%–31.51%). Overall, hypertension, coronary heart disease, carotid arteriosclerosis, hepatic cyst, arrhythmia, and nonalcoholic fatty liver disease were common accompanying diseases with FH.ConclusionsIt is necessary to establish appropriate diagnostic criteria and more positive treatment strategies for the FH inpatient population. In addition, promoting awareness of FH among doctors from other departments is also necessary. Therefore, developing a comprehensive management strategy for FH disease is very important.

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“…Although there has been increasing awareness of the need for screening and treatment of pediatric dyslipidemias, education and action from healthcare teams is still lagging, resulting in potential gaps in care. Lack of awareness of screening and treatment guidelines for pediatric dyslipidemia has even been seen among pediatric cardiologists [ 53 ], and is particularly true when considering HeFH [ 54 ]. As such, it remains critical that adults with HeFH or elevated cholesterol levels have their children screened.…”

Section: Discussionmentioning

confidence: 99%

Screening and Management of Dyslipidemia in Children and Adolescents

Schefelker

Peterson

2022

JCM

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This review provides an overview of pediatric dyslipidemia emphasizing screening and treatment recommendations. The presence of risk factors for cardiovascular disease in childhood poses significant risk for the development of atherosclerotic cardiovascular disease and cardiovascular events in adulthood. While atherogenic dyslipidemia is the most common dyslipidemia seen in children and can be suspected based on the presence of risk factors (such as obesity), familial hypercholesterolemia can be found in children with no risk factors. As such, universal cholesterol screening is recommended to identify children with these disorders in order to initiate treatment and reduce the risk of future cardiovascular disease. Treatment of pediatric dyslipidemia begins with lifestyle modifications, but primary genetic dyslipidemias may require medications such as statins. As pediatric lipid disorders often have genetic or familial components, it is important that all physicians are aware that cardiovascular risk begins in childhood, and can both identify these disorders in pediatric patients and counsel their adult patients with dyslipidemia to have their children screened.

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Awareness, diagnosis and treatment of heterozygous familial hypercholesterolemia (HeFH) – Results of a US national survey

Cited by 10 publications

References 21 publications

Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model

Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model

Screening and clinical characteristics analysis of familial hypercholesterolemia in a tertiary public hospital

Screening and Management of Dyslipidemia in Children and Adolescents

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