Heterozygous familial hypercholesterolaemia in specialist centres in South Africa, Australia and Brazil: Importance of early detection and lifestyle advice

Familial hypercholesterolaemia (FH) is the commonest monogenic disorder that accelerates atherosclerotic cardiovascular disease. We compared and contrasted the characteristics of patients from three specialist centres in the southern hemisphere. Adult index-cases with molecularly diagnosed heterozyg...

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Veröffentlicht in:Atherosclerosis 2018-10, Vol.277, p.470-476
Hauptverfasser: Pang, Jing, David Marais, A., Blom, Dirk J., Brice, Brigitte C., Silva, Pamela RS, Jannes, Cinthia E., Pereira, Alexandre C., Hooper, Amanda J., Ray, Kausik K., Santos, Raul D., Watts, Gerald F.
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container_issue
container_start_page 470
container_title Atherosclerosis
container_volume 277
creator Pang, Jing
David Marais, A.
Blom, Dirk J.
Brice, Brigitte C.
Silva, Pamela RS
Jannes, Cinthia E.
Pereira, Alexandre C.
Hooper, Amanda J.
Ray, Kausik K.
Santos, Raul D.
Watts, Gerald F.
description Familial hypercholesterolaemia (FH) is the commonest monogenic disorder that accelerates atherosclerotic cardiovascular disease. We compared and contrasted the characteristics of patients from three specialist centres in the southern hemisphere. Adult index-cases with molecularly diagnosed heterozygous FH attending specialist lipid centres in Cape Town, Perth and São Paulo were studied. Myocardial infarction, revascularisation, hypertension, diabetes, smoking and lipid-lowering treatment were recorded at the time of diagnosis and compared across the three centres. The spectrum of genetic variants causative of FH was significantly different in patients attending the centres in South Africa compared with Australia and Brazil. Hypertension and diabetes were more prevalent in Brazilian and Australian patients, than in South African patients, but the frequency of smoking was significantly greater in South Africa than the other two centres (p
doi_str_mv 10.1016/j.atherosclerosis.2018.06.822
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We compared and contrasted the characteristics of patients from three specialist centres in the southern hemisphere. Adult index-cases with molecularly diagnosed heterozygous FH attending specialist lipid centres in Cape Town, Perth and São Paulo were studied. Myocardial infarction, revascularisation, hypertension, diabetes, smoking and lipid-lowering treatment were recorded at the time of diagnosis and compared across the three centres. The spectrum of genetic variants causative of FH was significantly different in patients attending the centres in South Africa compared with Australia and Brazil. Hypertension and diabetes were more prevalent in Brazilian and Australian patients, than in South African patients, but the frequency of smoking was significantly greater in South Africa than the other two centres (p&lt;0.01). Age, male sex and smoking were significant independent predictors of coronary artery disease (CAD) in all three countries (p&lt;0.05). Patients with FH in three specialist centres in the southern hemisphere exhibit a high prevalence of non-cholesterol cardiovascular disease risk factors. Older age, male sex and smoking were more common among subjects with CAD. In all three countries, there should be vigorous programmes for the control of risk factors beyond good control of hypercholesterolaemia among patients with FH. Promotion of a healthy lifestyle, especially anti-smoking advice, is of paramount importance. •Heterozygous familial hypercholesterolaemia (FH) is the commonest monogenic lipid disorder that accelerates atherosclerotic cardiovascular disease.•Despite differences in genetic variants causing FH, patients attending lipid specialist centres in South Africa, Australia and Brazil have a high prevalence of non-cholesterol risk factors that impact on the risk of coronary artery disease (CAD).•In all three specialist centres, age at diagnosis and current or former smoking were consistent predictors of CAD. This underscores the importance of early treatment of FH patients, as well as counselling against smoking.</description><identifier>ISSN: 0021-9150</identifier><identifier>EISSN: 1879-1484</identifier><identifier>DOI: 10.1016/j.atherosclerosis.2018.06.822</identifier><identifier>PMID: 30270087</identifier><language>eng</language><publisher>Ireland: Elsevier B.V</publisher><subject>Australia ; Brazil ; Familial hypercholesterolaemia ; Heterozygous ; South Africa</subject><ispartof>Atherosclerosis, 2018-10, Vol.277, p.470-476</ispartof><rights>2018</rights><rights>Copyright © 2018. 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We compared and contrasted the characteristics of patients from three specialist centres in the southern hemisphere. Adult index-cases with molecularly diagnosed heterozygous FH attending specialist lipid centres in Cape Town, Perth and São Paulo were studied. Myocardial infarction, revascularisation, hypertension, diabetes, smoking and lipid-lowering treatment were recorded at the time of diagnosis and compared across the three centres. The spectrum of genetic variants causative of FH was significantly different in patients attending the centres in South Africa compared with Australia and Brazil. Hypertension and diabetes were more prevalent in Brazilian and Australian patients, than in South African patients, but the frequency of smoking was significantly greater in South Africa than the other two centres (p&lt;0.01). Age, male sex and smoking were significant independent predictors of coronary artery disease (CAD) in all three countries (p&lt;0.05). Patients with FH in three specialist centres in the southern hemisphere exhibit a high prevalence of non-cholesterol cardiovascular disease risk factors. Older age, male sex and smoking were more common among subjects with CAD. In all three countries, there should be vigorous programmes for the control of risk factors beyond good control of hypercholesterolaemia among patients with FH. Promotion of a healthy lifestyle, especially anti-smoking advice, is of paramount importance. •Heterozygous familial hypercholesterolaemia (FH) is the commonest monogenic lipid disorder that accelerates atherosclerotic cardiovascular disease.•Despite differences in genetic variants causing FH, patients attending lipid specialist centres in South Africa, Australia and Brazil have a high prevalence of non-cholesterol risk factors that impact on the risk of coronary artery disease (CAD).•In all three specialist centres, age at diagnosis and current or former smoking were consistent predictors of CAD. 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We compared and contrasted the characteristics of patients from three specialist centres in the southern hemisphere. Adult index-cases with molecularly diagnosed heterozygous FH attending specialist lipid centres in Cape Town, Perth and São Paulo were studied. Myocardial infarction, revascularisation, hypertension, diabetes, smoking and lipid-lowering treatment were recorded at the time of diagnosis and compared across the three centres. The spectrum of genetic variants causative of FH was significantly different in patients attending the centres in South Africa compared with Australia and Brazil. Hypertension and diabetes were more prevalent in Brazilian and Australian patients, than in South African patients, but the frequency of smoking was significantly greater in South Africa than the other two centres (p&lt;0.01). Age, male sex and smoking were significant independent predictors of coronary artery disease (CAD) in all three countries (p&lt;0.05). Patients with FH in three specialist centres in the southern hemisphere exhibit a high prevalence of non-cholesterol cardiovascular disease risk factors. Older age, male sex and smoking were more common among subjects with CAD. In all three countries, there should be vigorous programmes for the control of risk factors beyond good control of hypercholesterolaemia among patients with FH. Promotion of a healthy lifestyle, especially anti-smoking advice, is of paramount importance. •Heterozygous familial hypercholesterolaemia (FH) is the commonest monogenic lipid disorder that accelerates atherosclerotic cardiovascular disease.•Despite differences in genetic variants causing FH, patients attending lipid specialist centres in South Africa, Australia and Brazil have a high prevalence of non-cholesterol risk factors that impact on the risk of coronary artery disease (CAD).•In all three specialist centres, age at diagnosis and current or former smoking were consistent predictors of CAD. 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subjects Australia
Brazil
Familial hypercholesterolaemia
Heterozygous
South Africa
title Heterozygous familial hypercholesterolaemia in specialist centres in South Africa, Australia and Brazil: Importance of early detection and lifestyle advice
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