Abstract 15576: Cardiovascular Disease in Elderly Familial Hypercholesterolemia Individuals Attending a Cascade Screening Program

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
elaine coutinho ◽  
Marcio H Miname ◽  
Viviane Z Rocha ◽  
Marcio S Bittencourt ◽  
Cinthia Jannes ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Familial Hypercholesterolemia ◽  
High Intensity ◽  
Screening Program ◽  
Coronary Revascularization ◽  
Genetic Diagnosis ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Cvd Risk ◽  
Cascade Screening

Introduction: Familial hypercholesterolemia (FH) is associated with early onset of cardiovascular disease (CVD) and mortality. Lipid lowering treatment (LLT) may change the natural history of FH, however there is scant information about elderly individuals (older than 60 years) with FH. This study describes characteristics of elderly FH individuals presenting or not CVD. Hypothesis: Monogenic defects are important markers of CVD risk and initiation and long-term use of lipid lowering therapy (LLT) is relevant to minimize this risk. Methods: Cross-sectional analysis of clinical and laboratory of molecularly proven elderly FH (FH+) and non-affected (FH-) individuals attending a cascade screening program. FH+ were divided in those presenting or not CVD (defined as previous myocardial infarction or ischemic stroke, carotid or coronary revascularization and angina with stenosis ≥50% on angiography). Results: From 4,111 genotyped individuals, 462 (11.2%) elders were included (198 FH+ and 264 FH-). There was predominance of females in either groups, however with more men in FH+ 37.4% vs. 24.2%, p=0.002. No differences were seen between FH+ and FH- regarding age, [median (%25;75%)] 66 (62;71) and 66 (63;71) years, p=0.68; use of LLT 88.5% vs. 91.5%, p=0.29 and high intensity LLT 61.7 % vs. 55.8%, p=0.20, respectively. Despite longer LLT duration in FH+ 11(7;20) vs. 7 (3;13) years, p<0.001, in either groups LLT was started late, at 54 (47;61) and 59 (52;64) years, p <0.001, respectively in FH+ and FH-. FH+ had higher LDL-C at diagnosis, 243 (179;302) vs. 228 (209;251) mg/dL, p=0.013, as well as greater frequencies of previous CVD 40.9% vs. 27.3%, p=0.002, and early CVD 22.2% vs. 9.0%, p<0.001. In FH+, male sex [OR (95%CI)] 5.29 (2.25-12.45), p<0.001, and use of high intensity LLT 2.51 (1.08-5.87), p=0.03, were independently associated with CVD. Conclusions: The genetic diagnosis of FH was associated with higher rates of CVD and early CVD vs. FH- hypercholesterolemics. Elders with FH+ who survived despite late LLT initiation have a worse CVD history than FH- elders, emphasizing the relevance of a monogenic defect as cause of long-lasting hypercholesterolemia and CVD risk, particularly in men.

scholarly journals FAMILIAL HYPERCHOLESTEROLEMIA: DIAGNOSTIC ISSUES AND THERAPEUTIC POSSIBILITIES

2019 ◽  
Vol 26 (1) ◽  
pp. 175-186
Author(s):  
Vitalii K. Zafiraki ◽  
Alim M. Namitokov ◽  
Elena D. Kosmacheva
Keyword(s):  
Familial Hypercholesterolemia ◽  
Conflict Of Interest ◽  
Screening Program ◽  
Genetic Defect ◽  
Clinical Manifestations ◽  
Density Lipoprotein ◽  
Premature Death ◽  
Lipid Lowering ◽  
Monogenic Disease ◽  
Lipid Lowering Therapy

Familial hypercholesterolemia (FHC) is a common monogenic disease that occurs with a frequency of ~1:250 and is characterised by a high content of low-density lipoprotein (LDL) in the blood. This disease leads to the early development of atherosclerotic cardiovascular diseases (ACVD). Although the screening and diagnostics issues concerned with FHC are well developed and the modern lipid-lowering therapy can significantly improve the prognosis, the detectability of this disease remains extremely low. In recent years, the concept of FHC has undergone significant changes under the influence of large epidemiological studies, including verification of the FHC diagnosis using genetic tests. The article is aimed at discussing the clinical manifestations of FHC, as well as modern medical and extracorporal approaches to its treatment.Conclusion.Until the advent of modern lipid-lowering drugs, FHC had remained to be a disease with a poor prognosis due to early ACVD and the associated premature death. Today, the diseases is amenable to successful treatment, which, though not eliminating the genetic defect, allows almost the same life duration as in the general population to be achieved. However, all the possibilities of modern approaches to the treatment of this serious disease can be realized provided that a state-level screening program for such patients has been implemented.Conflict of interest: the authors declare no conflict of interest.

scholarly journals Genetics of Hypercholesterolemia: Comparison Between Familial Hypercholesterolemia and Hypercholesterolemia Nonrelated to LDL Receptor

2020 ◽  
Vol 11 ◽  
Author(s):  
Estíbaliz Jarauta ◽  
Ana Ma Bea-Sanz ◽  
Victoria Marco-Benedi ◽  
Itziar Lamiquiz-Moneo
Keyword(s):  
Cardiovascular Risk ◽  
Familial Hypercholesterolemia ◽  
Genetic Defect ◽  
Genetic Diagnosis ◽  
Ldl Receptor ◽  
Lipid Lowering ◽  
Atherosclerotic Cardiovascular Disease ◽  
Single Nucleotide Variants ◽  
Cascade Screening ◽  
The Moment

Severe hypercholesterolemia (HC) is defined as an elevation of total cholesterol (TC) due to the increase in LDL cholesterol (LDL-C) &gt;95th percentile or 190 mg/dl. The high values of LDL-C, especially when it is maintained over time, is considered a risk factor for the development of atherosclerotic cardiovascular disease (ASCVD), mostly expressed as ischemic heart disease (IHD). One of the best characterized forms of severe HC, familial hypercholesterolemia (FH), is caused by the presence of a major variant in one gene (LDLR, APOB, PCSK9, or ApoE), with an autosomal codominant pattern of inheritance, causing an extreme elevation of LDL-C and early IHD. Nevertheless, an important proportion of serious HC cases, denominated polygenic hypercholesterolemia (PH), may be attributed to the small additive effect of a number of single nucleotide variants (SNVs), located along the whole genome. The diagnosis, prevalence, and cardiovascular risk associated with PH has not been fully established at the moment. Cascade screening to detect a specific genetic defect is advised in all first- and second-degree relatives of subjects with FH. Conversely, in the rest of cases of HC, it is only advised to screen high values of LDL-C in first-degree relatives since there is not a consensus for the genetic diagnosis of PH. FH is associated with the highest cardiovascular risk, followed by PH and other forms of HC. Early detection and initiation of high-intensity lipid-lowering treatment is proposed in all subjects with severe HC for the primary prevention of ASCVD, with an objective of LDL-C &lt;100 mg/dl or a decrease of at least 50%. A more aggressive reduction in LDL-C is necessary in HC subjects who associate personal history of ASCVD or other cardiovascular risk factors.

P938Extensive formation of atherosclerotic cardiovascular disease in subjects with severe familial hypercholesterolemia defined by the international atherosclerosis society criteria

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
S Funabashi ◽  
Y Kataoka ◽  
M Harada-Shiba ◽  
M Hori ◽  
T Doi ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
High Risk ◽  
Familial Hypercholesterolemia ◽  
Peripheral Artery Disease ◽  
Cardiac Death ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Peripheral Artery ◽  
Lowering Therapy ◽  
Artery Disease

Abstract Introduction The International Atherosclerosis Society (IAS) has proposed “severe familial hypercholesterolemia (FH)” as a FH phenotype with the highest cardiovascular risk. Coronary artery disease (CAD) represents a major atherosclerotic change in FH patients. Given their higher LDL-C level and atherogenic clinical features, more extensive formation of atherosclerosis cardiovascular disease including not only CAD but stroke/peripheral artery disease (PAD) may more frequently occur in severe FH. Methods 481 clinically-diagnosed heterozygous FH subjects were analyzed. Severe FH was defined as untreated LDL-C>10.3 mmol/l, LDL-C>8.0 mmol/l+ 1 high-risk feature, LDL-C>4.9 mmol/l + 2 high-risk features or presence of clinical ASCVD according to IAS proposed statement. Cardiac (cardiac death and ACS) and non-cardiac (stroke and peripheral artery disease) events were compared in severe and non-severe FH subjects. Results Severe FH was identified in 50.1% of study subjects. They exhibit increased levels of LDL-C and Lipoprotein (a) with a higher frequency of LDLR mutation. Furthermore, a proportion of %LDL-C reduction>50% was greater in severe FH under more lipid-lowering therapy (Table). However, during the observational period (median=6.3 years), severe FH was associated with a 5.9-fold (95% CI, 2.05–25.2; p=0.004) and 5.8-fold (95% CI, 2.02–24.7; p=0.004) greater likelihood of experiencing cardiac-death/ACS and stroke/PAD, respectively (picture). Multivariate analysis demonstrated severe FH as an independent predictor of both cardiac-death/ACS (hazard ratio=3.39, 95% CI=1.12–14.7, p=0.02) and stroke/PAD (hazard ratio=3.38, 95% CI=1.16–14.3, p=0.02) events. Clinical characteristics of severe FH Non-severe FH Severe FH P-value Baseline LDL-C (mmol/l) 5.3±1.5 6.6±2.0 <0.0001 Lp(a) (mg/dl) 15 [8–28] 21 [10–49] <0.0001 LDLR mutation (%) 49.6% 58.9% 0.00398 On-treatment LDL-C (mmol) 133 [106–165] 135 [103–169] 0.9856 %LDL-C reduction>50% 21.3% 49.8% <0.0001 High-intensity statin (%) 13.3% 42.3% <0.0001 PCSK9 inhibitor (%) 6.3% 21.2% <0.0001 Clinical outcome Conclusions Severe FH subjects exhibit substantial atherosclerotic risks for coronary, carotid and peripheral arteries despite lipid lowering therapy. Our finding underscore the screening of systemic arteries and the adoption of further stringent lipid management in severe FH patients.

scholarly journals Hypercholesterolemia in children and adolescents: focus on the familial variant

2021 ◽  
pp. 294-299
Author(s):  
I. N. Zakharova ◽  
I. M. Osmanov ◽  
I. I. Pshenichnikova ◽  
T. M. Tvorogova ◽  
I. N. Kholodova ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Familial Hypercholesterolemia ◽  
Age Groups ◽  
Index Patient ◽  
Vascular Lesions ◽  
Cholesterol Concentration ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Cascade Screening ◽  
Lowering Therapy

Familial hypercholesterolemia is characterized by a significant increase in serum low-density lipoprotein cholesterol concentration, which even in the absence of other risk factors leads to the development of atherosclerotic vascular lesions beginning in childhood. With significant prevalence in the population, familial hypercholesterolemia is rarely diagnosed in time due to the Long absence of clinical manifestations. Today the urgent task is to develop and implement programs of primary detection of familial hypercholesterolemia in children and adolescents. Early detection of patients with familial hypercholesterolemia and timely initiation of adequate lipid-lowering therapy will curb the rate of atherosclerosis progression, which will significantly reduce disability and mortality from cardiovascular diseases in older age groups. There are four types of screening: cascade, targeted, opportunistic and universal. Cascade screening is currently considered the most effective and cost-effective way to identify new patients with familial hypercholesterolemia among relatives of an index patient, the patient with the established diagnosis. Targeted screening is based on searching for individuals with familial hypercholesterolemia among groups of patients with the early development of atherosclerotic vascular lesions, for example, in cardiology or neurology hospitals. Opportunistic screening is a non-systematic, sporadic determination of cholesterol levels in patients seeking medical care for any reason. It is most applicable in primary care health care settings. Universal screening is a mass screening of certain age groups and is a highly effective way of early diagnosis, especially in combination with reverse cascade screening of parents, siblings, and other relatives of the index patient. Implementation of programs of early childhood detection of familial hypercholesterolemia, setting up systems of adequate routing of patients, timely prescription of effective lipid-lowering therapy will contribute to health preservation and prolongation of working age, development, and preservation of labor potential of the country.

Abstract 15779: Quality of Life in a Cohort of Familial Hypercholesterolemia Patients Undergoing Molecular Cascade Screening in Brazil

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Ana Cristina Souto ◽  
Alexandre Pereira ◽  
Cinthia E Jannes ◽  
Julia Fukushima ◽  
Jose E Krieger ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Familial Hypercholesterolemia ◽  
Linear Models ◽  
Screening Program ◽  
Short Form ◽  
Smoking Habit ◽  
Genetic Diagnosis ◽  
Cascade Screening ◽  
Social Demographic

Introduction:: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated disease associated with elevated risk of early cardiovascular disease (CVD) and thus can reduce quality of life. The present health related quality of life (HRQL) investigation, evaluated patients personal interpretation of morbidity burden in daily life. Methods: The study included a total of 1,032 adult individuals participating in a FH molecular cascade-screening program. The involved individuals were index cases (IC n=363), with genetic diagnosis or FH and their first-degree relatives (FDR, n=669). All patients were evaluated at the first session of the molecular diagnosis process. HRQL measurements, mental (MCS) and physical (PCS) component scores, was carried out with the Medical Outcomes Study (MOS) 12-Item Short-Form Health Survey (SF-12) questionnaire. Results: IC were older (52±13.1 vs. 46±16.2 years, P<0.05) and presented lower PCS than FDR (44.7±9.3 vs. 49.2±8.4, P<0.05). No differences were seen on the MCS component. Overall, generalized linear models showed that smoking habit (11.9% prevalence, P=0.006), previous diagnosis of hyperlipidemia (78.6%, P=0.020) and depression (13.5% prevalence, P<0.000) were significant predictors of MCS. The presence of heart failure (6.5%, P=0.018), angina pectoris (12.9%, P=0.005), previous myocardial infarction (12.3%, P=0.012), hypertension (33.9%, P=0.018) and obesity (12.8%, P<0.000) were all predictors of PCS. The presence of arrhythmias (10.7% prevalence) predicted both MCS and PCS (P=0.042 and P=0.00, respectively). Male gender (42.4%, P<0.000) and education level (< 9 years of background, 28% P<0.000) were social-demographic aspects predictive of differences in MCS and PCS, respectively. Conclusions: Reductions in the individuals’ reported quality of life were explained by differences in social-demographic characteristics but mainly by inadequate health/disease status, such as risk factors and previous CVD. Active FH genetic cascade diagnosis by promoting early and adequate medical care and thus preventing early CVD, may improve substantially the subjective appraisal of HRQL.

Abstract 043: Health Insurance and the Risk of Incident Cardiovascular Disease in the Multi-Ethnic Study of Atherosclerosis

2017 ◽  
Vol 10 (suppl_3) ◽  
Author(s):  
Matthew T Crim ◽  
Joe X Xie ◽  
Yi-An Ko ◽  
Roger S Blumenthal ◽  
Michael J Blaha ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Health Insurance ◽  
Lower Risk ◽  
Cox Regression ◽  
Subclinical Atherosclerosis ◽  
Private Insurance ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Cvd Risk ◽  
Ethnic Study

Background: Health insurance plays an important role in access to medical care and is the focus of extensive policy efforts. We examined the association of health insurance with cardiovascular disease (CVD) incidence. Methods and Results: The Multi-Ethnic Study of Atherosclerosis, sponsored by the National Heart, Lung and Blood Institute of the NIH, followed a US cohort, aged 45-84 without clinical CVD at baseline, for a median of 12.2 years; 788 events occurred among 6,674 individuals. Data were stratified by baseline health insurance status. Kaplan-Meier survival and Cox regression analyses were used to assess the association between health insurance and incident CVD (myocardial infarction, resuscitated cardiac arrest, stroke, CVD death, and angina), adjusting for biomedical CVD risk (traditional risk factors, including age and race/ethnicity, and markers of subclinical atherosclerosis) and socioeconomic status (SES). The majority of individuals had private insurance (51%). Uninsured individuals (9%) were more likely to have untreated hypertension and diabetes, less likely to be on lipid-lowering therapy, and more likely to receive care in an Emergency Department (p < 0.0001). Income, 10-year CVD risk, and 10-year event-free survival varied across insurance groups ( Table ). After adjustment for biomedical CVD risk, individuals with health insurance had a lower risk of incident CVD compared to the uninsured (HR 0.72, p=0.03). However, with additional adjustment for SES (income, education, and employment), insurance was no longer associated with incident CVD (HR 0.78, p=0.12). Among the insurance groups, those with private insurance had a lower risk of incident CVD after adjustment for both biomedical CVD risk and SES (HR 0.70, p=0.03). Medicare and Medicaid coverage were not associated with incident CVD. The military/VA group had a lower risk of incident CVD with adjustment for biomedical CVD risk (HR 0.57, p=0.02) that was no longer significant after adjustment for SES (HR 0.66, p=0.09). Conclusions: The association of health insurance with CVD incidence varied by insurance group, and private insurance was associated with a lower risk of incident CVD. Further exploration of the features of health insurance coverage that impact CVD incidence may facilitate improvements in the primary prevention of CVD.

scholarly journals Correlation between different LDL-R mutations and response to ab-PCSK9 therapy in a group of patient with genetic diagnosis of Familial Hypercholesterolemia. Preliminary report

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Buonaiuto ◽  
M Gentile ◽  
I.L Calcaterra ◽  
C Giacobbe ◽  
M Tripaldella ◽  
...  
Keyword(s):  
Primary Prevention ◽  
Secondary Prevention ◽  
Familial Hypercholesterolemia ◽  
Genetic Diagnosis ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Ldlr Gene ◽  
Days Of Therapy ◽  
Significant Difference ◽  
Compound Heterozygotes

Abstract Introduction Familial hypercholesterolemia (FH) is an autosomal dominant disease that leads to premature cardiovascular disease (CAD). The availability of ab-PCSK9 has changed the approach to therapy. Purpose To evaluate the relationship between different types of mutations in LDLR gene and response to ab-PCSK9. Methods 73 FH patients, 33 women and 40 men (53.9±13. yrs), in primary prevention (N=46) and secondary prevention (N=27), were recruited. This sample included patients with mutations in LDLR gene: heterozygotes for missense mutations (N=31), for null mutations (N=31), compound heterozygotes or homozygotes (N=11). At baseline, the whole sample had a maximally tolerated lipid lowering therapy (MT-LLT) without ab-PCSK9; 16 patients had MT-LLTs intolerance. After 160 days with ab-PCSK9 therapy we evaluated the achievement of a goal (LDL-C&lt;70 mg/dL in primary prevention without Diabetes Mellitus, LDL-C&lt;55 mg/dL). Results After 160 days of therapy with ab-PCSK9 (45 patients on Alirocumab, 28 patients on Evolocumab) and MT-LLT, 29/73 patients (39.7%) of the whole sample achieve the goal of LDL-C. Of them 14/29 (48.2%) were in primary prevention, 15/29 (51.7%) in secondary prevention, no difference in achievement of the goal. We then evaluated the percent of patients achieving the goal of LDL-C: 15/31 (48.3%) patients with missense mutation and 14/31 (45.1%) patients with null mutation, no significant difference among groups; 0/11 compound heterozygotes or homozygotes; 3/16 (18.7%) MT-LLTs intolerance. The other main cardiovascular risk factors did not influence of the achievement the goal of LDL cholesterol. Conclusions Lack of correlation between type of mutation in heterozygous FH patients and ab-PCSK9 therapy response; response was significantly poorest in patients with compound heterozygosis or homozygosis mutation as compared to heterozygotes; the intolerance to MT-LLT was significant in the achievement of the goal of LDL-C. Different between guideline 2016 vs 2019 Funding Acknowledgement Type of funding source: None

Abstract 16708: Increasing Age and the Benefit From Higher-intensity Lipid Lowering With Ezetimibe/Simvastatin vs. Simvastatin Alone: Results From the IMPROVE-IT Trial

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Richard G Bach ◽  
Christopher Cannon ◽  
Robert Giugliano ◽  
Jennifer White ◽  
Yuliya Lokhnygina ◽  
...  
Keyword(s):  
High Intensity ◽  
Proportional Hazards ◽  
Coronary Revascularization ◽  
Age Groups ◽  
Continuous Variable ◽  
Cox Proportional Hazards ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Coronary Syndrome ◽  
Event Rates

Introduction: While lipid lowering reduces cardiovascular (CV) events, evidence supporting high-intensity lipid lowering among elderly pts is more limited, and recent guidelines recommend moderate rather than high-intensity therapy for pts >75 yrs. We explored age subgroups within the IMPROVE-IT trial to evaluate whether age modified the benefit of adding ezetimibe (EZ) to statin therapy. Methods and Results: The IMPROVE-IT trial demonstrated the combination of EZ and simvastatin (EZ/S) significantly reduced major CV events vs. simvastatin (S) alone in pts with acute coronary syndrome (ACS) and LDL-C between 50 and 125 mg/dL. The primary composite endpoint was CV death, myocardial infarction, stroke, unstable angina requiring hospitalization, and coronary revascularization >30 days. Outcomes according to age were compared in pre-specified subgroups using Kaplan-Meier (KM) analysis and Cox proportional hazards models using age as a continuous variable. Of the 18,144 pts enrolled, 7971 (44%) were 65 yrs or older and 2798 (15%) were 75 yrs or older at randomization. As age increased, event rate increased with KM rates at 7 yrs in the S arm of 30.8% for pts <65 yrs, 39.9% for pts ≥65 yrs, and 47.6% for pts ≥75 yrs. Treatment with EZ/S compared with S resulted in lower event rates in all age groups with an absolute reduction for pts <65 yrs of 0.85% (HR 0.98 CI 0.90-1.05), for pts ≥65 yrs of 3.6% (HR 0.89 CI 0.82-0.96), and for pts ≥75 yrs of 8.7% (HR 0.80 CI 0.70-0.90), with interaction P values of 0.09 and 0.005, respectively. Using age as a continuous variable found event rates for EZ/S vs. S were always lower, but the test for interaction between age and treatment effect for the primary endpoint was non-significant (P=0.15). The rate of gallbladder, liver, and muscle-related adverse events was not increased with EZ/S vs. S among older pts or younger pts. Conclusions: In the IMPROVE-IT trial, pts 65 yrs or older and especially pts 75 yrs or older after ACS derived substantial benefit from higher-intensity lipid lowering therapy with EZ/S compared with S alone, with no increase in safety issues among older age subgroups. These results may have implications for guideline recommendations regarding more intensive lipid lowering in the elderly.

scholarly journals Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

2020 ◽  
Vol 33 (10) ◽  
pp. 1251-1256
Author(s):  
Engin Kose ◽  
Melis Kose ◽  
Sureyya Ipek Ozturk ◽  
Esra Ozcan ◽  
Huseyin Onay ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Familial Hypercholesterolemia ◽  
Cause Of Death ◽  
Screening Program ◽  
Developed Countries ◽  
Statin Treatment ◽  
Lipid Lowering ◽  
Cascade Screening ◽  
Lipid Screening ◽  
The Mean

AbstractObjectivesPremature coronary artery disease is the most common preventable cause of death in developed countries, and familial hypercholesterolemia (FH) is the most common monogenetic disorder of lipid metabolism, predisposing for premature coronary artery. FH is the most common preventable cause of death in developed countries. In 2016, the national lipid screening program in school-age children has been started in Turkey. In this study, we aimed to evaluate the efficacy of lipid screening program, lipid-lowering treatments, and the challenges of treatments in children diagnosed with FH.MethodsPatients diagnosed with FH in the pediatric metabolism outpatient clinic were retrospectively evaluated. Changes in lipid profile with dietary interventions and statin treatments were assessed. The results of cascade screening were analyzed.ResultsFifty-one patients diagnosed with FH were enrolled in the study. Twenty-four (47.1%) were female. The mean age of the patients was 9.8 ± 3.2 years. Heterozygous LDLR gene mutation was detected in all patients. Three novel pathogenic variations were revealed with the genetic investigation. Forty-one (80.4%) patients had high adherence to CHILD-2 dietary recommendations. The mean low-density lipoprotein cholesterol (LDL-C) level decreased by 14.5 ± 7.6% after dietary intervention. Parents refused to start statin treatment in 8 (15.7%) patients. Statin treatment was initiated to 22 (43.1%) patients. Mean LDL-C level decreased from 204.1 ± 19.1 mg/dL to 137.0 ± 13.1 mg/dL. In cascade screening, 7 (13.7%) parents without a diagnosis of FH were diagnosed with FH. After the screening program, statin treatment was initiated for 18 (35.3%) parents and 7 (16.3%) siblings.ConclusionsWe can conclude that screening for FH in children is crucial for diagnosing FH not only in children but also in their relatives. Although statins are safe and effective in achieving the target LDL-C level, we determined significant resistance for initiating statin treatment in patients.

scholarly journals Diabetes mellitus and cardiovascular risk management in patients with rheumatoid arthritis in a large international audit

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A.N.N.E Semb ◽  
S Rollefstad ◽  
J Sexton ◽  
G Kitas ◽  
P Van Riel ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Diabetes Mellitus ◽  
Cardiovascular Disease ◽  
Lipid Lowering ◽  
Funding Source ◽  
Lipid Lowering Therapy ◽  
Treatment Goals ◽  
Cvd Risk ◽  
Esc Guidelines ◽  
To Receive

Abstract Background The cardiovascular disease (CVD) risk in patients with rheumatoid arthritis (RA) is comparable to that of patients with diabetes mellitus (DM). Although several studies have indicated high prevalence's of DM in RA patients, little is known about how this affects their CVD risk. Objectives To examine indications for, and use of antihypertensive treatment (a-HT) and lipid-lowering therapy (LLT) in RA patients with DM (RA-DM) and RA patients without DM (RAwoDM). Further, to compare the prevalence of various types of CVD across RA-DM and RAwoDM. Methods The cohort was derived from the SUrvey of cardiovascular disease Risk Factor in patients with Rheumatoid Arthritis (SURF-RA), which was performed in 53 centres/17 countries in 5 world regions (West and East Europe; North and Latin America; and Asia) from 2014 - 2019. Indication for a-HT was defined as: 1) systolic/diastolic blood pressure (BP) ≥140/90 mm Hg, 2) self-reported hypertension, and/or 3) current use of a-HT. Indication for LLT was defined according to ESC guidelines. CVD risk estimates (by SCORE) were multiplied by 1.5 according to EULAR recommendations. Target treatment targets for BP and lipids were defined according to ESC guidelines applicable at the time data were recorded. Results Presence of comorbid DM was available in 10 602 (73.1%) of the 14 503 RA patients included in SURF-RA, of whom 75 and 1262 patients reported DM type 1 and type 2, respectively (total 1337 patients, 12.6%). Although less often current smokers, RA-DM patients were more often previous smokers, male sex and had higher body mass index compared to RAwoDM (p&lt;0.0001 for all). a-HT (84.7% vs 62.3%) and LLT (100% vs 47.2%) were more frequently indicated in RA-DM than in RAwoDM patients (p&lt;0.0001 for both). RA-DM were more likely than RAwoDM to receive a-HT on indication (60.4% vs 57.6%, p&lt;0.0001), while the difference in LLT use on indication was not significantly different (45.7% vs 42.5%, p=0.06). Moreover, RA-DM compared to RAwoDM patients had more often reached treatment goals when on a-HT (60.7% vs 54.1%, p&lt;0.0001) and LLT (62.8% vs 48.9%, p&lt;0.0001). Finally, the risk of all recorded established CVD (coronary heart disease, stroke, peripheral artery disease and atrial fibrillation) was increased by a factor of 2 to 3 in RA-DM compared to RAwoDM (Figure). Conclusion The effect of RA and comorbid DM on CVD risk appears to be additive. While CVD preventive medications are more often indicated in RA-DM than in RAwoDM patients, they are also more likely to receive such therapy and to reach CVD preventive treatment goals. The latter finding may be due to more developed CVD preventive care in DM compared to RA patients. Improved CVD preventive systems for patients with RA are warranted. CVD in RA patients with and without DM Funding Acknowledgement Type of funding source: Other. Main funding source(s): Lilly

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