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Atherosclerosis. 2018 Oct;277:470-476. doi: 10.1016/j.atherosclerosis.2018.06.822.

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

Author information

1
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
2
Division of Chemical Pathology, University of Cape Town Health Science Faculty and National Health Laboratory Service, Cape Town, South Africa.
3
Division of Lipidology and Hatter Institute, Department of Medicine, University of Cape Town Health Science Faculty and Groote Schuur Hospital, Cape Town, South Africa.
4
Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil.
5
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.
6
Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom.
7
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address: gerald.watts@uwa.edu.au.

Abstract

BACKGROUND AND AIMS:

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.

METHODS:

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.

RESULTS:

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<0.01). Age, male sex and smoking were significant independent predictors of coronary artery disease (CAD) in all three countries (p<0.05).

CONCLUSIONS:

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.

KEYWORDS:

Australia; Brazil; Familial hypercholesterolaemia; Heterozygous; South Africa

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