scholarly journals Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

2012 ◽  
Vol 97 (11) ◽  
pp. 3956-3964 ◽  
Author(s):  
Marianne Benn ◽  
Gerald F. Watts ◽  
Anne Tybjaerg-Hansen ◽  
Børge G. Nordestgaard

Context: The diagnosis of familial hypercholesterolemia (FH) can be made using the Dutch Lipid Clinic Network criteria. This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes. Objective: We employed this tool to investigate the prevalence of FH and the associations between FH and coronary artery disease and cholesterol-lowering medication in the Copenhagen General Population Study. Setting: The study was of an unselected, community-based population comprising 69,016 participants. Main Outcome Measures: FH (definite/probable) was defined as a Dutch Lipid Clinic Network score higher than 5. Coronary artery disease was myocardial infarction or angina pectoris. Results: The prevalence of FH was 0.73% (one in 137). Of participants with FH, 20% had an LDLR or APOB mutation. The prevalence of coronary artery disease among FH participants was 33%. Only 48% of subjects with FH admitted to taking cholesterol-lowering medication. The odds ratio for coronary artery disease off cholesterol-lowering medication was 13.2 (10.0–17.4) in definite/probable FH compared with non-FH subjects, after adjusting for age, gender, body mass index, hypertension, metabolic syndrome and diabetes, and smoking. The corresponding adjusted odds ratio for coronary artery disease in FH subjects on cholesterol-lowering medication was 10.3 (7.8–13.8). Conclusion: The prevalence of FH appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication. The very high risk of coronary artery disease irrespective of use of medication reflects the extent of underdiagnosis and undertreatment of FH in the community and primary care.

Author(s):  
Thanh Huong Truong

TÓM TẮT Đặt vấn đề: Dữ liệu xơ vữa động mạch (ĐM) cảnh ở người mắc bệnh động mạch vành sớm (BĐMVS) còn hạn chế tại Việt Nam. Do đó, nghiên cứu này nhằm mục tiêu xác định tỉ lệ xơ vữa ĐM cảnh và các yếu tố liên quan đến tình trạng này ở người mắc BĐMVS tại Việt Nam. Đối tượng, phương pháp nghiên cứu: Đây là nghiên cứu mô tả với 94 người mắc BĐMVS được siêu âm ĐM cảnh. Kết quả: Tình trạng hẹp ĐM cảnh không ý nghĩa và có ý nghĩa quan sát thấy ở 16 (17.0%) và 4 bệnh nhân (4.3%), tương ứng. Phân tích hồi quy logistic đa biến thấy nồng độ lipoprotein cholesterol tỷ trọng thấp (LDL-C) trong máu liên quan độc lập với hẹp ĐM cảnh có ý nghĩa (Odds Ratio = 1.504). Kết luận: Tại Việt Nam, người mắc BĐMVS có tỉ lệ cao bị hẹp ĐM cảnh. Sàng lọc hẹp ĐM cảnh nên được thực hiện cho nhóm bệnh nhân này, đặc biệt là khi có kèm tăng LDL-máu. Từ khoá: Xơ vữa, hẹp động mạch cảnh, bệnh động mạch vành, sớm ABSTRACT BURDEN OF CAROTID ATHEROSCLEROSIS IN PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE Background: Data about carotid atherosclerosis in patients with premature coronary artery disease (PCAD) is still limited in Vietnam. Therefore, this study aims to investigate the prevalence of carotid atherosclerosis in patients with PCAD and factors related to carotid stenosis in these patients in Vietnam. Methods: This is a cross-sectional study that enrolled 94 patients with PCAD. All of patients were screened carotid atherosclerosis using ultrasonography. Results: Non-significant andsignificant carotid stenosiswere observed in 16 patients (17.0%) and 4 patients (4.3%), respectively. Multivariate logistic regression analysis showed that serum low density lipoprotein cholesterol (LDL-C) level was independently related to the presence of carotid stenosis with Odds ratio as 1.504. Conclusions: Prevalence of carotid stenosis is high in patients with PCAD in Vietnam. Screening of carotid stenosis should be recommended in these patients, especially in whom with elevated LDL-C. Key words: Atherosclerosis, carotid stenosis,coronary artery disease, premature.


Heart India ◽  
2018 ◽  
Vol 6 (4) ◽  
pp. 156
Author(s):  
DigvijayDeeliprao Nalawade ◽  
JaywantM Nawale ◽  
AjayS Chaurasia ◽  
Dhirendra Tiwari

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Joost Besseling ◽  
Gerard K Hovingh ◽  
John J Kastelein ◽  
Barbara A Hutten

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%.


2019 ◽  
Vol Volume 12 ◽  
pp. 71-78 ◽  
Author(s):  
Carlo Pirazzi ◽  
Lina Håkansson ◽  
Carola Gustafsson ◽  
Elmir Omerovic ◽  
Olov Wiklund ◽  
...  

1998 ◽  
Vol 80 (12) ◽  
pp. 878-880 ◽  
Author(s):  
J. W. Eikelboom ◽  
R. Parsons ◽  
R. R. Taylor ◽  
F. M. van Bockxmeer ◽  
R. I. Baker

SummaryThe 20210 G/A prothrombin gene mutation is associated with an increased risk of venous thrombosis but whether there is an association of the mutation with premature coronary artery disease and acute myocardial infarction remains unclear.To further assess the role of the G/A genotype as a risk factor for arterial vascular disease, we performed a case-control study of 644 patients aged less than 50 years with angiographically proven coronary artery disease, 402 of whom had myocardial infarction, and 679 unrelated healthy control subjects aged less than 50 years, randomly selected from the electoral roll.The prevalence of the G/A genotype was 2.5% in patients with coronary artery disease, and 3.2% in control subjects (odds ratio 0.8; 95% confidence interval 0.35 to 1.83). The mutation was not more frequent among patients with a history of myocardial infarction (2.2%, odds ratio 0.7; 95% confidence interval 0.27 to 2.05), and there was no evidence of an interaction between the prothrombin mutation and conventional cardiovascular disease risk factors. There was no association between genotype and extent of angiographic coronary artery disease (p = 0.73).We conclude that the 20210 G/A prothrombin gene mutation is not a major risk factor for premature coronary artery disease in our predominantly Caucasian Australian population.


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