Familial hypercholesterolaemia : Challenges in primary care

Medicine Today

Volumn 16, Issue 8, 2015, Pages 20-26

  Brett, Tom ^a,b   Watts, Gerald F ^c,d   Garton Smith, Jacquie ^d,e,f   Bell, Damon A ^c,d,g,h   Vickery, Alistair W ^i,j   Pang, Jing ^c   Arnold Reed, Diane ^a  

^a UNIVERSITY OF NOTRE DAME   (Australia)

^b Mosman Park Medical Group   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d ROYAL PERTH HOSPITAL   (Australia)

^e DEPARTMENT OF HEALTH   (Australia)

^f Director Wembley Downs Family Practice   (Australia)

^g Path West Laboratory Medicine   (Australia)

^h ST JOHN OF GOD HOSPITAL   (Australia)

ⁱ UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^j Gwelup Medical Centre   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FLUINDOSTATIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PRAVASTATIN; SIMVASTATIN;

ARTICLE; COMMUNICATION SKILL; CONSULTATION; CORONARY ARTERY DISEASE; DIET; EXERCISE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; GENETIC SCREENING; HEALTH PROMOTION; HUMAN; LIFESTYLE MODIFICATION; MEDICATION COMPLIANCE; PATIENT COUNSELING; PHYSICAL EXAMINATION; PRIMARY MEDICAL CARE; SMOKING CESSATION;

EID: 84940555776     PISSN: 1443430X     EISSN: 22030794     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review. Am J Epidemiol 2004; 160: 407-420.
2. Nordestgaard B, Chapman M, Humphries S, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478- 3490.
3. Marks D, Thorogood M, Neil HAW, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168: 1-14.
4. Watts GF, Sullivan DR, Poplawski N, et al. Familial hypercholesterolaemia: A model of care for Australasia. Atherosclerosis Supplements 2011; 12: 221-263.
5. Nherera L, Calvert NW, DeMott K, et al. Cost-effectiveness analysis of the use of a high-intensity statin compared to a low-intensity statin in the management of patients with familial hypercholesterolaemia. Curr Med Res Opin 2010; 26: 529-536.
6. Watts GF, Gidding S, Wierzbicki AS, et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014; 171: 309-325.
7. Lansberg P, Tuzgöl S, Van De Ree M, et al. Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands. Ned Tijdschr Geneeskd 2000; 144: 1437-1440.
8. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97: 3956-3964.
9. Watts GF, Shaw JE, Pang J, Magliano DJ, Jennings GL, Carrington MJ. Prevalence and treatment of familial hypercholesterolemia in Australian communities. Int J Cardiol 2015; 185: 69-71.
10. Taylor A, Wang D, Patel K, et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet 2010; 77: 572-580.
11. National Institute for Health and Clinical Excellence and The National Collaborating Centre for Primary Care. NICE Clinical Guideline 71: Identification and management of familial hypercholesterolaemia, London: Royal College of General Practitioners (UK); 2008.
12. Vickery AW, Bell D, Garton-Smith J, Kirke AB, Pang J, Watts GF. Optimising the detection and management of familial hypercholesterolaemia: central role of primary care and its integration with specialist services. Heart Lung Circ 2014; 23: 1158-1164.
13. Qureshi N, Humphries SE, Seed M, Rowlands P, Minhas R; NICE Guideline Development Group. Identification and management of familial hyper cholesterolaemia: What does it mean to primary care?. Br J Gen Pract 2009; 59: 773-778.
14. Pedersen KMV, Humphries SE, Roughton M, Besford JS. The national audit of the management of familial hypercholesterolaemia 2010: full report. London: Clinical Standards Department, Royal College of Physicians; 2010.
15. Bell DA, Hooper AJ, Bender R, et al. Opportunistic screening for familial hypercholesterolaemia via a community laboratory. Ann Clin Biochem 2012; 49: 534-537.
16. Bell DA, Bender R, Hooper AJ, et al. Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia. Clin Chim Acta 2013; 422: 21-25.
17. Bell DA, Hooper AJ, Edwards G, et al. Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner. Atherosclerosis 2014; 234: 469-472.
18. Ademi Z, Watts GF, Pang J, et al. Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolaemia. J Clin Lipidol 2014; 8: 390-400.
19. Britt H, Miller GC, Charles J, et al. General practice activity in Australia 2000-01 to 2009-10: 10 year data tables. General practice series no. 28. Cat. no. GEP 28. Canberra: AIHW 2010; pp. 37-39.
20. Newson AJ, Humphries SE. Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005; 13: 401-408.
21. Bell DA, Kirke AB, Barbour R, et al. Can patients be accurately assessed for familial hypercholesterolaemia in primary care? Heart Lung Circ 2014; 23: 1153-1157.
22. Leren TP, Finborud TH, Manshaus TE, et al. Diagnosis of familial hyper cholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genetics 2008; 11: 26-35.
23. Watts GF, Juniper A, van Bockxmeer F, Ademi Z, Liew D, O'Leary P. Familial hypercholesterolaemia: A review with emphasis on evidence for treatment, new models of care and health economic evaluations. Int J Evid Based Healthc 2012; 10: 211-221.
24. Nherera L, Marks D, Minhas R, Thorogood M, Humphries SE. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011; 97: 1175- 1181.
25. Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014: Ehu274.