Abstract |
Familial hypercholesterolaemia (FH) is a common autosomal dominantly inherited disorder in which impaired clearance of plasma low-density lipoprotein cholesterol causes premature atherosclerotic vascular disease and tendon xanthomata. This workshop aimed to consolidate information on the diagnosis and management of FH in South Africa. The genetic causes include mutations in the LDL receptor, apolipoprotein B100 and proprotein convertase subtilisin/kexin type 9 (PCSK9). Additionally, the concatenation of multiple gene variants can result in polygenic FH. Therapeutic measures include a healthy lifestyle, statins and cholesterol-absorption inhibitors that will achieve control of the dyslipidaemia in the majority of cases. The recently introduced monoclonal antibodies to PCSK9 can improve achievement of target concentration in severe cases. FH is present in all sectors of the South African population but there is sparse documentation in the indigenous African populations. FH should be actively sought, diagnosed and treated with judicious pharmacotherapy and screening of relatives.
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Authors | A D Marais, M J Kotze, F J Raal, A A Khine, P J Talmud, S E Humphries |
Journal | Cardiovascular journal of Africa
(Cardiovasc J Afr)
2019 Sep/Oct
Vol. 30
Issue 5
Pg. 297-304
ISSN: 1680-0745 [Electronic] South Africa |
PMID | 31746944
(Publication Type: Congress)
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Chemical References |
- Anticholesteremic Agents
- Biomarkers
- Cholesterol, LDL
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Topics |
- Anticholesteremic Agents
(adverse effects, therapeutic use)
- Biomarkers
(blood)
- Cholesterol, LDL
(blood)
- Clinical Decision-Making
- DNA Mutational Analysis
- Genetic Counseling
- Genetic Predisposition to Disease
- Heredity
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
(diagnosis, drug therapy, epidemiology, genetics)
- Mutation
- Pedigree
- Phenotype
- Point-of-Care Testing
- Precision Medicine
- Predictive Value of Tests
- Societies, Medical
- South Africa
(epidemiology)
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