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

Abstract 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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Monoclonal Antibodies in the Management of Familial Hypercholesterolemia: Focus on PCSK9 and ANGPTL3 Inhibitors

Current Atherosclerosis Reports ◽

10.1007/s11883-021-00972-x ◽

2021 ◽

Vol 23 (12) ◽

Author(s):

Angela Pirillo ◽

Alberico L. Catapano ◽

Giuseppe D. Norata

Keyword(s):

Monoclonal Antibodies ◽

High Risk ◽

Familial Hypercholesterolemia ◽

Plasma Levels ◽

Low Density Lipoprotein ◽

Genetic Defect ◽

Density Lipoprotein ◽

Lipid Lowering ◽

Low Density ◽

Premature Cardiovascular Disease

Abstract Purpose of Review Familial hypercholesterolemia (FH) is a monogenic disorder characterized by high plasma levels of low-density lipoprotein cholesterol (LDL-C) since birth and a high risk of premature cardiovascular disease. The genetic defect is carried in only one allele in heterozygous FH (HeFH) or in both in the most severe homozygous FH (HoFH). Current guidelines recommend to reduce substantially LDL-C levels in these high-risk patients, with the need to use association therapy combining agents with different mechanisms of action. As most cases of FH are attributable to mutations in the gene encoding the low-density lipoprotein receptor (LDLR), statins, even in combination with ezetimibe, are less effective in reducing LDL-C plasma levels in FH patients, who require a more intensive approach with additional lipid-lowering agents. Additional targets playing key roles in regulating LDL-C levels are represented by PCSK9 and ANGPTL3. Recent Findings Two monoclonal antibodies (mAbs) targeting PCSK9, evolocumab and alirocumab, significantly reduce LDL-C levels in HeFH patients. In patients with HoFH, the efficacy of mAbs to PCSK9 is strictly related to the presence of a residual LDLR activity; thus, patients carrying null mutations do not respond to the therapy with these mAbs, whereas some effects can be appreciated in HoFH bearing defective mutations. Conversely, evinacumab, the mAb targeting ANGPTL3, is highly effective in reducing LDL-C levels even in HoFH patients carrying null LDLR mutations, thanks to its LDLR-independent mechanism of action. Summary Monoclonal antibodies inhibiting PCSK9 have shown a robust effect in FH patients presenting a residual LDLR activity, while ANGPTL3 inhibitors appear to be promising even in patients carrying null LDLR mutations.

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Carotid Plaques Correlates in Patients With Familial Hypercholesterolemia

Angiology ◽

10.1177/0003319715596281 ◽

2015 ◽

Vol 67 (5) ◽

pp. 471-477 ◽

Cited By ~ 9

Author(s):

Małgorzata Waluś-Miarka ◽

D. Czarnecka ◽

W. Wojciechowska ◽

M. Kloch-Badełek ◽

M. Kapusta ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Subclinical Atherosclerosis ◽

Density Lipoprotein ◽

High Sensitivity ◽

Intima Media Thickness ◽

Carotid Intima Media Thickness ◽

Apo B ◽

Carotid Plaques ◽

Premature Cardiovascular Disease ◽

Increased Risk

Patients with familial hypercholesterolemia (FH) are at increased risk of premature cardiovascular disease. We compared factors associated with the presence of carotid plaques and carotid intima–media thickness (cIMT), markers of subclinical atherosclerosis, in 241 patients with FH (98, 40.7% men; mean age 41 ± 18.4 years). Patients with FH having carotid plaques (36.5%) had mean age, apolipoprotein (apo) B, glucose, apoA1, systolic blood pressure (SBP) and diastolic BP, waist/hip ratio (WHR), and body mass index higher than patients without plaques. Logistic regression revealed that apoB (odds ratio [OR] per 1 unit change 1.03, P = .005), high-density lipoprotein cholesterol (HDL-C; OR per 1 standard deviation [SD] change 0.59, P = .015), and non-HDL-C (OR per 1SD change 1.53, P = .04) were significantly associated with the presence of plaques. The cIMT correlated with obesity parameters, BP, apoB, glucose, high-sensitivity C-reactive protein, creatinine, γ-glutamyl transpeptidase, and alanine transaminase ( P < .001). Regression analysis revealed that cIMT was significantly associated with apoB, SBP, and WHR. These results confirm the role of apoB-containing lipoproteins and low HDL-C with the presence of carotid plaques and apoB, BP, and WHR with cIMT.

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Abstract 18995: Statins in Familial Hypercholesterolemia - Effects on Coronary Artery Disease and All-cause Mortality

Circulation ◽

10.1161/circ.132.suppl_3.18995 ◽

2015 ◽

Vol 132 (suppl_3) ◽

Author(s):

Joost Besseling ◽

Gerard K Hovingh ◽

John J Kastelein ◽

Barbara A Hutten

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Familial Hypercholesterolemia ◽

Lipid Lowering ◽

Premature Coronary Artery Disease ◽

Lipid Lowering Therapy ◽

Time Varying ◽

All Cause Mortality ◽

Artery Disease

Introduction: Heterozygous familial hypercholesterolemia (heFH) is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk for premature coronary artery disease (CAD) and death. Reduction of CAD and mortality by statins has not been properly quantified in heFH. The aim of the current study is to determine the effect of statins on CAD and mortality in heFH. Methods: All adult heFH patients identified by the Dutch FH screening program between 1994 and 2014 and registered in the PHARMO Database Network were eligible. Of these patients we obtained hospital, pharmacy (in- and outpatient), and mortality records in the period between 1995 and 2015. The effect of statins (time-varying) on CAD and all-cause mortality was determined using a Cox proportional hazard model, while correcting for the use of other lipid-lowering therapy, thrombocyte aggregation inhibitors, antihypertensive and antidiabetic medication (all time-varying). Furthermore, we used inverse probability for treatment weighting (IPTW) to account for differences between statin-treated and untreated patients regarding history of CAD before follow-up, age at start of follow-up and age of screening, as well as body mass index, LDL-C and triglycerides. Results: Of the 25,479 identified heFH patients, 11,021 gave informed consent to obtain their medical records, of whom 2,447 could be retrieved. We excluded 766 patients younger than 18. The remaining 1,681 heFH patients comprised our study population and these had very similar characteristics as compared to the 23,798 excluded FH patients, e.g. mean (SD) LDL-C levels were 214 (74) vs. 203 (77) mg/dL. Among 1,151 statin users, there were 133 CAD events and 15 deaths during 10,115 statin treated person-years, compared to 17 CAD events and 9 deaths during 4,965 person-years in 530 never statin users (combined rate: 14.6 vs. 5.2, respectively, p<0.001). After applying IPTW to account for indication bias and correcting for use of other medications, the hazard ratio of statin use for CAD and all-cause mortality was 0.61 (0.40 - 0.93). Conclusions: In heFH patients, statins lower the risk for CAD and mortality by 39%.

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P146 Undertaking an integrated nurse led review (INCLUDE) for patients with inflammatory conditions: does it change management of morbidities?

Rheumatology ◽

10.1093/rheumatology/keaa111.141 ◽

2020 ◽

Vol 59 (Supplement_2) ◽

Author(s):

Samantha Hider ◽

Annabelle Machin ◽

Milica Bucknall ◽

Kendra Cooke ◽

Clare Jinks ◽

...

Keyword(s):

Primary Care ◽

Medical Record ◽

Controlled Trial ◽

Management Plan ◽

Lipid Lowering ◽

Cvd Risk ◽

Inflammatory Conditions ◽

Increased Risk ◽

Comorbidity Burden ◽

Randomised Controlled

Abstract Background People with inflammatory rheumatological conditions (IRCs), including rheumatoid arthritis (RA), ankylosing spondylitis (AS), psoriatic arthritis (PsA), polymyalgia rheumatica (PMR) and giant cell arteritis (GCA), are at an increased risk of common comorbidities, such as cardiovascular disease (CVD), osteoporosis and mood problems, which result in poorer patient outcomes. The INCLUDE study assessed the feasibility of conducting a randomised controlled trial (RCT) of a nurse-led, holistic, integrated review in primary care. Methods A pilot cluster RCT was delivered across four general practices. Patients with a Read code for an IRC were recruited by postal invitation. In intervention practices (n = 2), eligible patients were invited to attend a nurse-delivered INCLUDE review - an integrated consultation assessing CVD risk (QRisk2), bone health (FRAX) and mood (PHQ2 and GAD2), using a study-specific computerised template. Patients received an individualized patient management plan, including signposting to additional services as appropriate. Medical record review was undertaken (in consenting participants) at 12 months. We compared primary care contacts (which include consultations, letters and test results) and prescribing rates (of antihypertensives, lipid-lowering, osteoporosis and antidepressant/anxiety medication) at baseline and 12 months. Results 333 patients participated in the study. The mean (SD) age was 68.2 (13.4) years and 200 (60%) were female. Of these 172 (52%) had RA and 88 (26%) had PMR. 154 (46%) reported high blood pressure, 70 (21%) existing anxiety/depression and 37 (11%) osteoporosis. Medical record data was available for 299/333 participants. Participants in intervention practices had more primary care contacts (mean 29 vs 22). Over the 12-month follow-up, there was higher prescribing of all medication classes in participants in intervention practices (see Table), particularly so for osteoporosis medication (baseline 29% vs 12 month 46%). Conclusion Nurse-delivered integrated reviews for patients with IRCs identified a significant comorbidity burden. Practices undertaking these reviews had higher prescribing rates at 12 months following treatment of previously un-identified conditions, suggesting that patients with IRCs would benefit from an integrated care review to identify and manage common morbidities. Disclosures S. Hider None. A. Machin None. M. Bucknall None. K. Cooke None. C. Jinks None. E. Healey None. A. Finney None. K. Cooke None. S. Wathall None. C. Mallen None. C. Chew-Graham None.

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Abstract 16172: Predicting the Presence of a Mutation Resulting in Familial Hypercholesterolemia - Development of a Prediction Model in a Cohort of 64,000 Subjects

Circulation ◽

10.1161/circ.130.suppl_2.16172 ◽

2014 ◽

Vol 130 (suppl_2) ◽

Author(s):

Joost Besseling ◽

Johannes B Reitsma ◽

Gerard K Hovingh ◽

Barbara A Hutten

Keyword(s):

Prediction Model ◽

Familial Hypercholesterolemia ◽

General Practitioners ◽

Dna Analysis ◽

External Validation ◽

Lipid Lowering ◽

Multivariable Logistic Regression Analysis ◽

Lipid Lowering Therapy ◽

Internal Validation ◽

Premature Cardiovascular Disease

Introduction: Familial hypercholesterolemia (FH) is a hereditary disease that warrants early diagnosis to prevent premature cardiovascular disease (CVD) by initiating therapy. A definitive diagnosis is made by demonstrating a causal mutation. This might not only increase therapy adherence, but is also an important requirement for cascade screening. However, DNA analysis is costly and careful selection of subjects is important. Unfortunately, the accuracy of current selection criteria is poor. Hypothesis: We set out to develop a model to predict the presence of an FH causing mutation in persons referred by general practitioners. Methods: All participants in the Dutch FH screening program from January 1994 till January 2014 were included. Cross-sectional data was available on medical history, lipid profile and DNA analysis. The primary outcome was the presence of a deleterious FH mutation. We developed a prediction model using multivariable logistic regression analysis. Results: Our study population consisted of 25,809 FH patients and 38,297 unaffected relatives. Our final model included age, gender, levels of LDL-cholesterol, HDL-cholesterol and triglycerides, history of CVD, use of statins and other lipid lowering therapy, smoking and alcohol. The performance was good: the area under the receiver operating characteristic curve (AUC) was 85.2% (95% CI: 84.9 - 85.5). The model was well calibrated with a slope of 1.02 (1 is optimal). Internal validation was excellent: the AUC was unaltered in 100 bootstrap samples. The performance of the model can be illustrated by selecting subjects with a predicted probability of 30% or lower. This would identify 87.0% of all unaffected subjects, and avoid testing in 46.1% of the population. Conclusions: We developed a model to predict the presence of a deleterious FH mutation in subjects referred by general practitioners. Our model showed good discrimination and calibration, with no signs of overfitting during internal validation. After external validation, we will develop an interactive web-based calculator or smart phone application that can be used to calculate the probability of the presence of an FH mutation in individual subjects and will facilitate the use of our prediction model in daily clinical practice.

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Evaluation of Cardiovascular Risk Factors In Patients With Familial Hypercholesterolemia From The North-Eastern Area of Romania

10.21203/rs.3.rs-61509/v1 ◽

2020 ◽

Author(s):

Cristiana-Elena Vlad ◽

Liliana Foia ◽

Laura Florea ◽

Irina-Iuliana Costache ◽

Andreea Covic ◽

...

Keyword(s):

Risk Factors ◽

Cardiovascular Risk ◽

Cardiovascular Risk Factors ◽

Familial Hypercholesterolemia ◽

Lipid Lowering ◽

High Dose ◽

The North ◽

Increased Risk ◽

North Eastern ◽

North Eastern Part

Abstract Background. Familial hypercholesterolemia (FH) is one of the most frequent and important monogenic cholesterol pathology. Traditional and nontraditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease (ASCVD) in this population. Objective. To establish the prevalence and the cardiovascular risk factors of FH population, to identify the ASCVD through the clinico-biological and imaging modifications during the 24-months follow-up.Methods. This first prospective study in the north-eastern part of Romania, carried out between October 2017-October 2019, out of 980 patients with dyslipidemia evaluated with the Dutch Lipid Network (DLCN) and Simone Broome (SM) scores, only 61 patients with DLCN score above 3 and FH possible/probably (SM score) were included.Results. The 61 FH subjects recorded a mean age of 48.46±12.53 years, with more women compared to men. Regarding the traditional cardiovascular risk factors, we identified that high blood pressure was the main factor in all patients, followed by sedentary lifestyle, obesity, smoker status, personal cardiovascular history and type 2 diabetes. The measured DLCN score recorded: “possible” FH identified in 39.4%, the “probable”FH in 45.9% and the “definite” FH in 14.7%. After the administration of the lipid-lowering agents for 24 months, TC and LDL-C levels, carotid intima-media thickness (cIMT) and ankle-brachial index (ABI) decreased and HDL-C levels increased, but without reaching the guideline goals. In addition, the high-dose of statin alone, the high-dose of statin with fenofibrate, subjects with „possible” FH, the normal values of cIMT and ABI, had a reduced time of ASCVD occurrence. Also, the high cIMT values, physical inactivity, high TC, TG and high-sensitivity C-reactive protein (hsCRP) levels were associated with an increased risk of ASCVD. Conclusions. To reduce cardiovascular risk, the FH patients need a cascade screening and a specific management. Even though it was the first observational study in the north-eastern part of Romania, further molecular genetics studies are needed to confirm the FH cases.

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Current Causes of Death in Familial Hypercholesterolemia

10.21203/rs.3.rs-1196025/v1 ◽

2021 ◽

Author(s):

Victoria Marco Benedí ◽

Ana M Bea ◽

Ana Cenarro ◽

Estíbaliz Jarauta ◽

Martín Laclaustra ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Causes Of Death ◽

Low Density Lipoprotein ◽

Family Members ◽

Density Lipoprotein ◽

Lipid Lowering ◽

Cvd Risk ◽

Premature Cardiovascular Disease ◽

And Control ◽

Cvd Mortality

Abstract Background: Familial hypercholesterolemia (FH) is a codominant autosomal disease characterized by high low-density lipoprotein cholesterol (LDLc) and high risk of premature cardiovascular disease (CVD). The molecular bases have been well defined and effective lipid-lowering is possible. This analysis aimed to study the current major causes of death of genetically defined heFH. Methods: Case-control study designed to analyze life-long mortality in a group of heFH and control families. Data of first-degree family members of cases and controls (non-consanguineous cohabitants), including deceased relatives, were collected from a questionnaire and review of medical records. Mortality was compared among heFH, non-heFH, and non-consanguineous family members.Results: We analyzed 813 family members, 26.4% of them, deceased. Among deceased, mean age of death was 69.3 years in heFH, 73.5 years in non-heFH, and 73.2 years in non-consanguineous, differences that were not statistically significant. Among them, CVD cause of death was 59.7% in heFH, 37.7.% in non-heFH, and 37.4% in non-consanguineous (P=0.012). These differences were greater restricting the analyses to parents’ mortality. The hazard ratio of dying from CVD was 3.02 times higher (95% CI, 1.90-4.79) in heFH members in comparison with the other two groups (non-FH and non-consanguineous), who did not differ in their risk.Conclusions: Current CVD mortality in heFH is lower and occurs later than that described in the last century but still higher than in non-FH. This better prognosis in CVD risk is not associated with changes in non-CVD mortality.

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Abstract 13328: Impact of Cascade Screening for Familial Hypercholesterolemia on Cardiovascular Events

Circulation ◽

10.1161/circ.142.suppl_3.13328 ◽

2020 ◽

Vol 142 (Suppl_3) ◽

Author(s):

Hayato Tada ◽

Atsushi Nohara ◽

Masakazu Yamagishi ◽

Masayuki Takamura ◽

Masa-aki Kawashiri

Keyword(s):

Risk Factors ◽

Familial Hypercholesterolemia ◽

Cardiovascular Events ◽

Lipid Lowering ◽

Atherosclerotic Cardiovascular Disease ◽

Prognostic Impact ◽

Cascade Screening ◽

Increased Risk ◽

Ascvd Risk ◽

The Impact

Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the low-density lipoprotein (LDL) receptor or associated genes, resulting in elevated serum cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Early diagnosis and timely treatment can substantially lower the risk of ASCVD. In this sense, cascade screening could be one of the most useful options. However, few data exist regarding the impact of cascade screening for FH on the reduction of risk of ASCVD events. We aimed to evaluate the prognostic impact of cascade screening for FH. Methods: We retrospectively investigated the health records of 1,050 patients with clinically diagnosed FH, including probands and their relatives who were cascade-screened, who were referred to our institute. We used Cox models that were adjusted for established ASCVD risk factors to assess the association between cascade screening and major adverse cardiovascular events (MACE). The median period of follow-up was 12.3 years (interquartile range [IQR] = 9.1-17.5 years), and MACE included death from any causes or hospitalization due to ASCVD events. Results: During the observation period, 246 participants experienced MACE. The mean age of patients identified through cascade screening was 18-years younger than that of the probands (38.7 yr vs. 57.0 yr, P < 2.2 х 10 –16 ), with a lower proportion of ASCVD risk factors. Interestingly, patients identified through cascade screening under milder lipid-lowering therapies were at reduced risk for MACE (hazard ratio [HR] = 0.36; 95%CI = 0.22 to 0.60; P = 6.3 х 10 –5 ) when compared with the probands, even after adjusting for those known risk factors. Conclusions: The identification of patients with FH via cascade screening appeared to result in better prognoses.

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Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk

European Journal of Preventive Cardiology ◽

10.1177/2047487319829746 ◽

2019 ◽

Vol 26 (12) ◽

pp. 1262-1270 ◽

Cited By ~ 14

Author(s):

Seohyuk Lee ◽

Leo E Akioyamen ◽

Sumayah Aljenedil ◽

Jean-Baptiste Rivière ◽

Isabelle Ruel ◽

...

Keyword(s):

Genetic Testing ◽

Confidence Interval ◽

Familial Hypercholesterolemia ◽

Odds Ratio ◽

Lipid Lowering ◽

Atherosclerotic Cardiovascular Disease ◽

Lipid Lowering Therapy ◽

Lowering Therapy ◽

Increased Risk ◽

The Impact

Aims Familial hypercholesterolemia (FH) is the most common genetic disorder in medicine, with a prevalence of 1/250. Affected individuals have elevated low-density lipoprotein cholesterol (LDL-C) and an increased lifetime risk of atherosclerotic cardiovascular disease (ASCVD). The diagnosis of FH is based on algorithms that include LDL-C levels, physical manifestations, family history of high LDL-C and premature ASCVD, and, more recently, genetic testing. We sought to determine the impact of genetic testing on the: 1) diagnosis of ‘definite familial hypercholesterolemia’, 2) initiation and adherence of lipid-lowering therapy and 3) risk of ASCVD. Methods We performed a systematic review and meta-analysis, pooling odds ratios and 95% confidence intervals for ASCVD from studies comparing risk estimates in individuals harboring FH-causing variants and unaffected individuals. Results After screening 3304 unique publications, 56 studies were included in the analysis. 1) Genetic testing provided confirmation of FH in 28–80%, over clinical criteria alone, depending on the diagnostic algorithm and the method of analysis. In two large population-based studies comprising 76,751 individuals, an FH-causing variant was identified in only 1.7–2.5% of subjects with an LDL-C > 4.9 mmol/L (190 mg/dL). 2) A confirmed molecular diagnosis increased lipid-lowering therapy adherence (five studies, n = 4181 definite FH). 3) Loss-of-function variant of the LDLR were at a markedly increased risk of myocardial infarction (odds ratio 6.77, 95% confidence interval 4.75–9.66), and patients with a milder (hypomorphic) pathogenic LDLR change had a 4.4-fold increase in risk (odds ratio 4.4, 95% confidence interval 2.34–8.26), compared with controls. Conclusion DNA sequencing confirms the diagnosis of FH but has a poor yield in unselected patients whose sole criterion is an elevated LDL-C. Initiation and adherence to treatment is improved. The risk of ASCVD is 4.4- to 6.8-fold increased in patients with an FH-causing variant compared with controls, depending on the severity of the DNA change.

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Evaluation of Cardiovascular Risk Factors in Patients With Familial Hypercholesterolemia From the North-Eastern Area of Romania

10.21203/rs.3.rs-61509/v2 ◽

2020 ◽

Author(s):

Cristiana-Elena Vlad ◽

Liliana Foia ◽

Laura Florea ◽

Irina-Iuliana Costache ◽

Andreea Covic ◽

...

Keyword(s):

Risk Factors ◽

Cardiovascular Risk ◽

Cardiovascular Risk Factors ◽

Familial Hypercholesterolemia ◽

Cardiovascular Events ◽

Lipid Lowering ◽

The North ◽

Increased Risk ◽

North Eastern ◽

North Eastern Part

Abstract Background. Familial hypercholesterolemia (FH) is one of the most frequent and important monogenic cholesterol pathologies. Traditional and nontraditional cardiovascular risk factors increase the prevalence of atherosclerotic cardiovascular disease (ASCVD) in this population. Objective. (a)To identify FH patients in the North-Eastern part of Romania and to analyze demographic, clinical and paraclinical data (b)to identify of new cardiovascular events in FH patients throughout the follow-up based on the administrated lipid lowering drugs.Methods. This first prospective study in the North-Eastern part of Romania was carried out between October 2017 and October 2019; out of 980 patients with dyslipidemia evaluated with the Dutch Lipid Network (DLCN) and Simon Broome (SM) scores, only 61 patients with DLCN score above 3 and possible/probable FH (SM score) were included.Results. The 61 FH subjects recorded a mean age of 48.5±12.5 years, with more female patients than male patients. Hypertension was the main cardiovascular risk factor for both sexes, followed by physical inactivity and obesity for the female FH group and active smoker for the male FH group. The measured DLCN score recorded: “possible” FH identified in 39.4%, “probable” FH in 45.9% and “definite” FH in 14.7%. After the administration of the lipid-lowering agents for 24 months, low-density cholesterol lipoprotein(LDL-C) levels and carotid intima-media thickness(cIMT) have decreased, while the ankle-brachial index(ABI) and high-density cholesterol lipoprotein(HDL-C) levels have increased. Also, the cIMT values over 0.9mm, total cholesterol(TC), triglyceride(TG), and high-sensitivity C-reactive protein(hsCRP) levels were associated with an increased risk of ASCVD. In addition, statins administrated in monotherapy have delayed de new cardiovascular events.Conclusions. To obtain a reduction of cardiovascular events, FH patients need cascade screening for early identification and a specific management with possible administration of monoclonal antibodies, despite the significant socio-economic barriers.

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