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Familial Hypercholesterolaemia in Primary Care: Knowledge and Practices among General Practitioners in Western Australia
ORIGINAL ARTICLE
Heart, Lung and Circulation (2014) 23, 309–313 1443-9506/04/$36.00 http://dx.doi.org/10.1016/j.hlc.2013.08.005
Familial Hypercholesterolaemia in Primary Care: Knowledge and Practices among General Practitioners in Western Australia Damon A. Bell a,b,c*, Jacquie Garton-Smith d, Alistair Vickery e, Andrew B. Kirke f, Jing Pang c, Timothy R. Bates a,c, Gerald F. Watts a,c a
Lipid Disorders Clinic, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia Department of Clinical Biochemistry, Royal Perth Hospital, Perth, Australia School of Medicine & Pharmacology, University of Western Australia, Perth, Australia d Clinical Lead, Cardiovascular Health Network, DoHWA and Hospital Liaison GP, Royal Perth Hospital, Australia e Primary Health Care – General Practice, SPARHC, Faculty of Medicine, Dentistry and Health Sciences, University of Western Australia, Perth, Australia f Rural Clinical School of Western Australia, University of Western Australia, Perth, Australia b c
Received 17 May 2013; received in revised form 6 August 2013; accepted 11 August 2013; online published-ahead-of-print 29 August 2013
Aim
To determine general practitioners’ (GPs’) knowledge and practice regarding familial hypercholesterolaemia (FH) in Western Australia.
Method
A structured questionnaire was anonymously completed by GPs. Information was sought on awareness and knowledge of FH including, diagnosis, inheritance, prevalence, cardiovascular risk, management practices and opinions on FH screening.
Results
191 GPs completed the survey, 62% were familiar with FH, 80% correctly defined FH and 68% identified the typical lipid profile, but only 33% were aware of national guidelines. There were knowledge deficits in prevalence, inheritance, and clinical features of FH, with correct responses in 27%, 45% and 38%, respectively. Most (84%) GPs considered themselves the most effective health professionals to detect FH, with 90% preferring laboratory interpretative commenting to highlight individuals at risk of FH. GPs identified appropriate cholesterol lowering drugs as mono (95%) or combination therapies (74%).
Conclusion
The majority of GPs considered they were the most effective health practitioners for managing FH and preferred laboratory reports to alert them of possible FH. Although GPs knowledge of cholesterol lowering therapies was good, their awareness of national guidelines, hereditability, prevalence and diagnostic features of FH was suboptimal. Implementing a community model of care for FH requires more extensive GP education.
Keywords
Familial hypercholesterolaemia General practitioner Knowledge Awareness Management practices
Introduction Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by increased low-density lipoprotein cholesterol (LDL-c) concentrations, tendon xanthomata
and premature atherosclerotic cardiovascular disease [1–3]. FH has a prevalence of at least 1:500 people and meets the World Health Organisation’s criteria for screening. However, Australia like most countries, currently does not have a formal FH screening program, and the majority of the estimated
*Corresponding author at: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, WA 6847, Australia. Tel.: +61 8 9224 2453; fax: +61 8 9224 1789., Email: [email protected] Crown Copyright © 2013 Published by Elsevier Inc on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved.
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40,000 people with FH in Australia remain undiagnosed and under treated [4].Opportunistic screening for FH by general practitioners (GPs) could address this deficit [5–8]. Recently, we demonstrated that GPs request 92% of the lipid profiles in the community, confirming that they are well placed to detect individuals with FH [9]. We now sought to determine FH knowledge and management practices among GPs in Western Australia.
Methods Subjects A formal questionnaire was offered to all GPs attending education sessions on the assessment and management of cardiovascular risk, before the session commenced. The surveys were voluntary, kept anonymous and were completed without discussion with either the specialist leading the education session, or other GPs attending the session. There were six sessions in metropolitan Perth, and two in rural Western Australia.
Questionnaire Participants were asked about their familiarity with FH, awareness of the National Heart Foundation/Australian
Atherosclerosis Society FH Network guidelines, description of FH, identification of the typical lipid profile, prevalence and inheritance of FH, risk of CVD, definitions of premature CVD, clinical features of FH, whether the diagnosis requires genetic confirmation, methods for alerting the possibility of FH, which health professional is best placed to detect FH, number of patients with FH they currently care for, whether they perform family screening, their treatment and referral practices regarding patients with severely elevated cholesterol. GPs were asked to choose the most correct statement, or to select one or more answers from a list; there were no open questions. The questionnaire is available at https://files.med dent.uwa.edu.au/udm/FH%20Questionnaire%20GP%20v9. zip. De-identified demographic data were sought from the participants including, gender, Fellowship of the Royal Australasian College of General Practitioners (FRACGP) status, years of practice, number of patients seen per month and if their practice was metropolitan or rural.
Analysis Data were collated and analyses performed using Microsoft Excel 2003 and R: A language and environment for statistical computing (R Foundation for Statistical Computing, Vienna,
Table 1 Summary of GPs Responses to Questions about FH Awareness, Knowledge and Practices. Proportion (%) Awareness Familiarity with FH rated as average or above Aware of the NHF/AAS FH guidelines
62 33
Aware of lipid specialists
62
Knowledge Correctly described FH
80
Correctly identified the lipid profile
68
Correctly identified the prevalence of FH in the community
27
Correctly identified the transmission rate to first degree relatives
45
Correctly identified the CVD risk in untreated FH Correctly identified the age threshold for premature CVD
29 30
Males
22
Females Correctly identified that genetic testing was not required to accurately diagnosis FH
50
Selected statins to treat hypercholesterolaemia
95
Selected a combination of statin and ezetimibe to treat severe hypercholesterolaemia
74
Practice Screened patients with premature CVD for FH, including screening family members Unaware or unsure whether they had FH patients under their care
56 65
Performed routine family screening of patients with FH
53
The most prevalent age for screening young people in a kindred with FH was
52
13–18 years; which was selected by Referred patients to lipid specialists
27
Opinions on Detection Selected GPs as the most effective health care provider for the early detection of FH
84
Selected interpretative commenting on lipid profiles to highlight patients at risk of FH
90
311
GP’s FH knowledge and practice
Austria). Chi squared or Fisher’s exact tests were used to determine if there were differences in FH awareness, knowledge, practices and opinions on FH detection using FRACGP status and metropolitan or rural practice as categorical variables. Approval was obtained by the Royal Perth Hospital Clinical Safety and Quality Unit (Reference number 120928-2).
100% 80% 60% 40% 20% 0%
Results
Statins
The questionnaire was completed by 191 of 200 general practitioners (95.5%) attending the education sessions.
Ezetimibe
Fibrates
Nicotinic acid
Bile acid sequestants
Figure 2 Proportion of GPs who selected these drugs are useful in the treatment of FH.
Demographics and Practice Details Of the 191 GPs 134 (70%) were males and 47 (25%) females, and 10 (5%) did not respond. Seventy-four percent of GPs were from the metropolitan area, 20% were rural, and 6% did not respond. FRACGP was held by 44%, 49% were nonFellows, and 7% did not respond. The median time in practice post Fellowship was 10 years (range 1–39 years) for the 42% of GPs who responded to this question. The mean number of patients seen per month was 492, median of 500 (range15–1000) for the 160 GPs who responded.
Knowledge and Awareness of FH One hundred and nineteen (62%) GPs rated their familiarity with FH as average or above. Sixty-three (33%) were aware of the National Heart Foundation/Australian Atherosclerosis Society FH Network Guidelines for the detection and management of FH. A summary of the results is presented in Table 1. The mean age given for premature cardiovascular disease was 43.6 years (sd 10.9 years) in males and 49.0 years (sd 11.1 years) in females.
Detecting FH The health care providers GPs considered had a role in the early detection of FH are demonstrated in Fig. 1. Interpretative commenting on the laboratory report was the preferred method to alert GPs to FH, selected by 59% as a single
100%
80%
60%
40%
20%
method, and by 90% as a single or combined approach. An alert generated by the practice clinical software system was selected as the single method by 2% of GPs, with 2% preferring a direct phone call from the laboratory, and 31% preferred all three of the above approaches.
Management Practices In patients with premature CVD, 56% of GPs indicated they would examine for corneal arcus, tendon xanthomata and take a detailed family history and screen close relatives. Data on screening practices was provided by 88 GPs, 15% stated they would screen the patient’s children only, 57% would screen the patient’s children and close relatives, 9% would not screen any relatives and 19% stated the question was not applicable. The most frequent age GPs would theoretically screen children of patients with premature CVD was between 13 and 18 years old, selected by 52% of GPs, 25% would test children aged under 13 years. Most GPs (62%) were aware of the regional specialist lipid service, although only 43% had referred patients to this service. One hundred and ten GPs provided information on the number of people with FH in their practice, 55 stated they did not have any patients with FH, the remaining 55 GPs reported between 1 and 10 patients with FH, 36 stating they had between 1 and 3 patients. The medications used to treat hypercholesterolaemia are demonstrated in Fig. 2. The combination of statins plus ezetimibe was selected by 74% of GPs to treat severe hypercholesterolaemia. There was no significant difference in awareness, knowledge, practices or opinions on detection between Fellows and non-Fellows of the RACGP. Rural GPs were less likely to rate their knowledge of FH as average or above compared to metropolitan GPs, P = 0.03. However, no actual FH knowledge differences were demonstrated.
0% GP
Lipid specialist
Nurse specialist
Cardiologist Endocrinologist
Other
Figure 1 Proportion of GPs who specified these healthcare providers have a major role in the early detection of FH.
Discussion This is the first formal survey of GPs knowledge and management practices regarding FH. While most GPs perceived their knowledge of FH as average or above, we found some important areas of knowledge deficit. GPs were generally
312
able to clinically define FH, although only one third were aware of the national guidelines and a third of GPs failed to correctly identify the typical lipid profile. Knowledge of the prevalence and heritability of FH were also suboptimal, these are important factors when formulating the pre-test probability an individual may have FH. GPs also considered premature CVD to occur over 10 years earlier than defined in national guidelines. Thus, they would miss an opportunity to screen for FH in a significant proportion of individuals at high risk of FH. Even if premature CVD was recognised, only half the GPs would screen close relatives appropriately, further reducing the potential to detect FH in a kindred. This is important as testing first-degree relatives of individuals with FH, termed cascade screening, has previously been demonstrated to be the most cost effective FH screening method [10]. A minority of GPs considered they currently had patients with FH in their practice, reflecting that FH is underdiagnosed in the community [4,5]. The per capita rate for GPs in Australia is 112 GPs per 100,000 people (892 patients per GP) [11]. On average, 80% of Australians visited a GP in the proceeding 12 months, suggesting a GP would review 713 different people per year, although the actual number will vary widely [12]. However, this suggests that a GP is only likely to see one or two people per year with FH. Although, a recent large Danish population study suggested the prevalence of ‘probable’ or ‘definite’ FH may be as high as 1:137, suggesting 17,500 individuals in western Australia may have FH [13]. The prevalence of 1:137 reinforces that FH will need to be predominantly detected and managed in primary care [8]. The majority of GPs stated they were the most effective healthcare provider to detect FH, which is encouraging as GPs are central to both systematic and opportunistic FH detection [5–8]. However, this survey has highlighted GPs’ awareness and knowledge of some important aspects of FH were suboptimal. Professional interventions to improve GP knowledge and awareness need to be formulated in collaboration with primary care and specialists in lipidology and preventative cardiology. It will also be important to investigate the impact these interventions have on FH detection and management. Most GPs preferred interpretative comments on the laboratory forms to alert possible FH. Interpretative comments have previously been associated with greater LDL cholesterol reductions and increased specialist referral in individuals at high risk of FH [14]. One third of GPs preferred an informatics approach applied to the practice database to highlight individuals with potential FH, although predominantly combined with interpretative commenting. An informatics approach using the GP practice database to identifying individuals with FH has been described [15]. Grey et al. identified 402 individuals at high risk of FH, 20 individuals were confirmed to have definite or probable FH after review of the notes. However, only six individuals were unknown to the specialist lipid clinic, and they uncover multiple significant database transcription errors.
D.A. Bell et al.
In primary care the diagnosis of FH will be made clinically, with the Dutch Lipid Clinic Network criteria [5]. However, after specialist review and confirmation, these individuals may have genetic testing for FH mutations. Genetic testing individuals with clinically definite FH in Western Australia had a 70% mutation detection rate, allowing genotypic cascade screening to occur, which has been demonstrated to be cost effective elsewhere [16,17]. Most GPs identified the more effective cholesterol lowering treatments, which is encouraging as cardiovascular disease was the third most prevalent presentation to a GP [18]. Lipid lowering medications were prescribed in 3.7% of encounters [18]. GPs, knowledge and familiarity with lipid lowering medication is consistent with the previously marked LDL-c reductions demonstrated in individuals at high risk of FH [14]. However, this suggests that the difference between the large LDL-c reduction and low specialist referral rates, after highlighting the potential for FH on the lipid report, was due to low FH awareness [14]. The relatively low long-term statin adherence rates in Australia are a further concern, as low statin adherence would decrease the cardiovascular protection [19,20]. This is especially important in FH patients with a high CVD incidence. GPs are central to improving adherence to lipid lowering therapies [5,21]. Statin compliance has been demonstrated to be higher in individuals formally diagnosed with FH, reinforcing the benefit of formal FH diagnosis [22]. An accurate family history is integral to both CVD risk assessment and the diagnosis of FH [5]. Although, this is often neglected or poorly recorded in clinical practice, both in primary and tertiary care [23,24]. Collecting family history systematically using a self-administered questionnaire has been shown to significantly increase the number of individuals identified with high CVD risk, without increasing patient anxiety [24]. If family history was available to the laboratory, either provided on the request form or via a selfadministered questionnaire, an expert computer system could use this to identify individuals at high risk of FH, and then assist in selecting an age and gender appropriate interpretative comment. We have recently demonstrated that the more specific the interpretative comment, the greater the associated clinical impact [14]. Given that GPs preferred interpretative comments to alert them of the possibility of FH, appending a comment outlining the additional clinical information required to diagnose FH may improve FH detection. However, these points require formal investigation. The opportunistic selection of GPs represents a limitation of these findings. However, the demographics (gender, RACGP Fellowship and the metropolitan/regional practice distribution) of our sample are reasonably representative of the GP population in Australia [11,18].
Conclusion The majority of GPs considered they were the most effective health practitioners for managing FH, although GPs,
GP’s FH knowledge and practice
awareness of national guidelines and knowledge of hereditability, prevalence and diagnostic features of FH were suboptimal. Implementing a community model of care for FH requires more extensive GP education combined with interventions to highlight at risk individuals which should augment FH detection and help close this important gap in CVD prevention. Further work is required to formulate professional interventions to improve FH awareness and knowledge, and then to determine the effect these interventions have on actual FH detection and management.
References [1] Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407–20. [2] 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. [3] Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007;4: 214–25. [4] Bender R, Bell DA, Hooper AJ, Edwards G, Van Bockxmeer FM, Watts GF, et al. Screening for familial hypercholesterolaemia. Pathology 2012; 44:122–8. [5] Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, HamiltonCraig I, Clifton PM, et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011;12:221–31. [6] Humphries SE, Hadfield G. Identifying patients with familial hypercholesterolaemia in primary care. Heart 2008;94:695–6. [7] Kirke A, Watts GF, Emery J. Detecting familial hypercholesterolaemia in general practice. Aust Fam Physician 2012;41:965–8. [8] Qureshi N, Humphries SE, Seed M, Rowlands P, Minhas R. Identification and management of familial hypercholesterolaemia: what does it mean to primary care? Br J Gen Pract 2009;59:773–6. [9] Bell DA, Hooper AJ, Bender R, McMahon J, Edwards G, van Bockxmeer F, et al. Opportunistic screening for familial hypercholesterolaemia via the community laboratory. Ann Clin Biochem 2012;49:534–7. [10] Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002;324:1303.
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[11] Australian Institute of Health and Welfare. Medical workforce 2011. National health workforce series no. 3. Cat. no. HWL 49. Canberra: AIHW; 2013. [12] Australian Bureau of Statistics. Australian Social Trends. Health Services: Use and Patient Experience; 2011, http://www.abs.gov.au/AUSSTATS/ [email protected]/Lookup/4102.0Main+Features20Mar+2011. [13] 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;97:3956–64. [14] Bell DA, Bender R, Hooper AJ, McMahon J, Edwards G, van Bockxmeer FM, et al. Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia. Clin Chim Acta 2013. http://dx.doi.org/10.1016/j.cca.2013.03.027. [15] Gray J, Jaiyeola A, Whiting M, Modell M, Wierzbicki AS. Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre. Heart 2008;94:754–8. [16] 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;10:211–21. [17] Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, et al. Genetic analysis of familial hypercholesterolaemia in Western Australia. Atherosclerosis 2012;224:430–4. [18] Britt HMG, Henderson J, Charles J, Valenti L, Harrison C, Bayram C, et al. General practice activity in Australia 2011–12. General practice series no. 31. Sydney: Sydney University Press; 2012. [19] Simons LA, Ortiz M, Calcino G. Long term persistence with statin therapy – experience in Australia 2006–2010. Aust Fam Physician 2011;40:319–22. [20] Simons LA, Levis G, Simons J. Apparent discontinuation rates in patients prescribed lipid-lowering drugs. Med J Aust 1996;164:208–11. [21] Bates TR, Connaughton VM, Watts GF. Non-adherence to statin therapy: a major challenge for preventive cardiology. Exp Opin Pharmacother 2009;10:2973–85. [22] Umans-Eckenhausen MA, Defesche JC, van Dam MJ, Kastelein JJ. Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch Intern Med 2003; 163:65–8. [23] Bates TR, Poulter EB, van Bockxmeer FM, Watts G. Family history: the neglected risk factor in disease prevention. Med J Aust 2010;193:429–30. [24] Qureshi N, Armstrong S, Dhiman P, Saukko P, Middlemass J, Evans PH, et al. Effect of adding systematic family history enquiry to cardiovascular disease risk assessment in primary care: a matched-pair, cluster randomized trial. Ann Intern Med 2012;156:253–62.
Heart, Lung and Circulation (2014) 23, 309–313 1443-9506/04/$36.00 http://dx.doi.org/10.1016/j.hlc.2013.08.005
Familial Hypercholesterolaemia in Primary Care: Knowledge and Practices among General Practitioners in Western Australia Damon A. Bell a,b,c*, Jacquie Garton-Smith d, Alistair Vickery e, Andrew B. Kirke f, Jing Pang c, Timothy R. Bates a,c, Gerald F. Watts a,c a
Lipid Disorders Clinic, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia Department of Clinical Biochemistry, Royal Perth Hospital, Perth, Australia School of Medicine & Pharmacology, University of Western Australia, Perth, Australia d Clinical Lead, Cardiovascular Health Network, DoHWA and Hospital Liaison GP, Royal Perth Hospital, Australia e Primary Health Care – General Practice, SPARHC, Faculty of Medicine, Dentistry and Health Sciences, University of Western Australia, Perth, Australia f Rural Clinical School of Western Australia, University of Western Australia, Perth, Australia b c
Received 17 May 2013; received in revised form 6 August 2013; accepted 11 August 2013; online published-ahead-of-print 29 August 2013
Aim
To determine general practitioners’ (GPs’) knowledge and practice regarding familial hypercholesterolaemia (FH) in Western Australia.
Method
A structured questionnaire was anonymously completed by GPs. Information was sought on awareness and knowledge of FH including, diagnosis, inheritance, prevalence, cardiovascular risk, management practices and opinions on FH screening.
Results
191 GPs completed the survey, 62% were familiar with FH, 80% correctly defined FH and 68% identified the typical lipid profile, but only 33% were aware of national guidelines. There were knowledge deficits in prevalence, inheritance, and clinical features of FH, with correct responses in 27%, 45% and 38%, respectively. Most (84%) GPs considered themselves the most effective health professionals to detect FH, with 90% preferring laboratory interpretative commenting to highlight individuals at risk of FH. GPs identified appropriate cholesterol lowering drugs as mono (95%) or combination therapies (74%).
Conclusion
The majority of GPs considered they were the most effective health practitioners for managing FH and preferred laboratory reports to alert them of possible FH. Although GPs knowledge of cholesterol lowering therapies was good, their awareness of national guidelines, hereditability, prevalence and diagnostic features of FH was suboptimal. Implementing a community model of care for FH requires more extensive GP education.
Keywords
Familial hypercholesterolaemia General practitioner Knowledge Awareness Management practices
Introduction Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by increased low-density lipoprotein cholesterol (LDL-c) concentrations, tendon xanthomata
and premature atherosclerotic cardiovascular disease [1–3]. FH has a prevalence of at least 1:500 people and meets the World Health Organisation’s criteria for screening. However, Australia like most countries, currently does not have a formal FH screening program, and the majority of the estimated
*Corresponding author at: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, WA 6847, Australia. Tel.: +61 8 9224 2453; fax: +61 8 9224 1789., Email: [email protected] Crown Copyright © 2013 Published by Elsevier Inc on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved.
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40,000 people with FH in Australia remain undiagnosed and under treated [4].Opportunistic screening for FH by general practitioners (GPs) could address this deficit [5–8]. Recently, we demonstrated that GPs request 92% of the lipid profiles in the community, confirming that they are well placed to detect individuals with FH [9]. We now sought to determine FH knowledge and management practices among GPs in Western Australia.
Methods Subjects A formal questionnaire was offered to all GPs attending education sessions on the assessment and management of cardiovascular risk, before the session commenced. The surveys were voluntary, kept anonymous and were completed without discussion with either the specialist leading the education session, or other GPs attending the session. There were six sessions in metropolitan Perth, and two in rural Western Australia.
Questionnaire Participants were asked about their familiarity with FH, awareness of the National Heart Foundation/Australian
Atherosclerosis Society FH Network guidelines, description of FH, identification of the typical lipid profile, prevalence and inheritance of FH, risk of CVD, definitions of premature CVD, clinical features of FH, whether the diagnosis requires genetic confirmation, methods for alerting the possibility of FH, which health professional is best placed to detect FH, number of patients with FH they currently care for, whether they perform family screening, their treatment and referral practices regarding patients with severely elevated cholesterol. GPs were asked to choose the most correct statement, or to select one or more answers from a list; there were no open questions. The questionnaire is available at https://files.med dent.uwa.edu.au/udm/FH%20Questionnaire%20GP%20v9. zip. De-identified demographic data were sought from the participants including, gender, Fellowship of the Royal Australasian College of General Practitioners (FRACGP) status, years of practice, number of patients seen per month and if their practice was metropolitan or rural.
Analysis Data were collated and analyses performed using Microsoft Excel 2003 and R: A language and environment for statistical computing (R Foundation for Statistical Computing, Vienna,
Table 1 Summary of GPs Responses to Questions about FH Awareness, Knowledge and Practices. Proportion (%) Awareness Familiarity with FH rated as average or above Aware of the NHF/AAS FH guidelines
62 33
Aware of lipid specialists
62
Knowledge Correctly described FH
80
Correctly identified the lipid profile
68
Correctly identified the prevalence of FH in the community
27
Correctly identified the transmission rate to first degree relatives
45
Correctly identified the CVD risk in untreated FH Correctly identified the age threshold for premature CVD
29 30
Males
22
Females Correctly identified that genetic testing was not required to accurately diagnosis FH
50
Selected statins to treat hypercholesterolaemia
95
Selected a combination of statin and ezetimibe to treat severe hypercholesterolaemia
74
Practice Screened patients with premature CVD for FH, including screening family members Unaware or unsure whether they had FH patients under their care
56 65
Performed routine family screening of patients with FH
53
The most prevalent age for screening young people in a kindred with FH was
52
13–18 years; which was selected by Referred patients to lipid specialists
27
Opinions on Detection Selected GPs as the most effective health care provider for the early detection of FH
84
Selected interpretative commenting on lipid profiles to highlight patients at risk of FH
90
311
GP’s FH knowledge and practice
Austria). Chi squared or Fisher’s exact tests were used to determine if there were differences in FH awareness, knowledge, practices and opinions on FH detection using FRACGP status and metropolitan or rural practice as categorical variables. Approval was obtained by the Royal Perth Hospital Clinical Safety and Quality Unit (Reference number 120928-2).
100% 80% 60% 40% 20% 0%
Results
Statins
The questionnaire was completed by 191 of 200 general practitioners (95.5%) attending the education sessions.
Ezetimibe
Fibrates
Nicotinic acid
Bile acid sequestants
Figure 2 Proportion of GPs who selected these drugs are useful in the treatment of FH.
Demographics and Practice Details Of the 191 GPs 134 (70%) were males and 47 (25%) females, and 10 (5%) did not respond. Seventy-four percent of GPs were from the metropolitan area, 20% were rural, and 6% did not respond. FRACGP was held by 44%, 49% were nonFellows, and 7% did not respond. The median time in practice post Fellowship was 10 years (range 1–39 years) for the 42% of GPs who responded to this question. The mean number of patients seen per month was 492, median of 500 (range15–1000) for the 160 GPs who responded.
Knowledge and Awareness of FH One hundred and nineteen (62%) GPs rated their familiarity with FH as average or above. Sixty-three (33%) were aware of the National Heart Foundation/Australian Atherosclerosis Society FH Network Guidelines for the detection and management of FH. A summary of the results is presented in Table 1. The mean age given for premature cardiovascular disease was 43.6 years (sd 10.9 years) in males and 49.0 years (sd 11.1 years) in females.
Detecting FH The health care providers GPs considered had a role in the early detection of FH are demonstrated in Fig. 1. Interpretative commenting on the laboratory report was the preferred method to alert GPs to FH, selected by 59% as a single
100%
80%
60%
40%
20%
method, and by 90% as a single or combined approach. An alert generated by the practice clinical software system was selected as the single method by 2% of GPs, with 2% preferring a direct phone call from the laboratory, and 31% preferred all three of the above approaches.
Management Practices In patients with premature CVD, 56% of GPs indicated they would examine for corneal arcus, tendon xanthomata and take a detailed family history and screen close relatives. Data on screening practices was provided by 88 GPs, 15% stated they would screen the patient’s children only, 57% would screen the patient’s children and close relatives, 9% would not screen any relatives and 19% stated the question was not applicable. The most frequent age GPs would theoretically screen children of patients with premature CVD was between 13 and 18 years old, selected by 52% of GPs, 25% would test children aged under 13 years. Most GPs (62%) were aware of the regional specialist lipid service, although only 43% had referred patients to this service. One hundred and ten GPs provided information on the number of people with FH in their practice, 55 stated they did not have any patients with FH, the remaining 55 GPs reported between 1 and 10 patients with FH, 36 stating they had between 1 and 3 patients. The medications used to treat hypercholesterolaemia are demonstrated in Fig. 2. The combination of statins plus ezetimibe was selected by 74% of GPs to treat severe hypercholesterolaemia. There was no significant difference in awareness, knowledge, practices or opinions on detection between Fellows and non-Fellows of the RACGP. Rural GPs were less likely to rate their knowledge of FH as average or above compared to metropolitan GPs, P = 0.03. However, no actual FH knowledge differences were demonstrated.
0% GP
Lipid specialist
Nurse specialist
Cardiologist Endocrinologist
Other
Figure 1 Proportion of GPs who specified these healthcare providers have a major role in the early detection of FH.
Discussion This is the first formal survey of GPs knowledge and management practices regarding FH. While most GPs perceived their knowledge of FH as average or above, we found some important areas of knowledge deficit. GPs were generally
312
able to clinically define FH, although only one third were aware of the national guidelines and a third of GPs failed to correctly identify the typical lipid profile. Knowledge of the prevalence and heritability of FH were also suboptimal, these are important factors when formulating the pre-test probability an individual may have FH. GPs also considered premature CVD to occur over 10 years earlier than defined in national guidelines. Thus, they would miss an opportunity to screen for FH in a significant proportion of individuals at high risk of FH. Even if premature CVD was recognised, only half the GPs would screen close relatives appropriately, further reducing the potential to detect FH in a kindred. This is important as testing first-degree relatives of individuals with FH, termed cascade screening, has previously been demonstrated to be the most cost effective FH screening method [10]. A minority of GPs considered they currently had patients with FH in their practice, reflecting that FH is underdiagnosed in the community [4,5]. The per capita rate for GPs in Australia is 112 GPs per 100,000 people (892 patients per GP) [11]. On average, 80% of Australians visited a GP in the proceeding 12 months, suggesting a GP would review 713 different people per year, although the actual number will vary widely [12]. However, this suggests that a GP is only likely to see one or two people per year with FH. Although, a recent large Danish population study suggested the prevalence of ‘probable’ or ‘definite’ FH may be as high as 1:137, suggesting 17,500 individuals in western Australia may have FH [13]. The prevalence of 1:137 reinforces that FH will need to be predominantly detected and managed in primary care [8]. The majority of GPs stated they were the most effective healthcare provider to detect FH, which is encouraging as GPs are central to both systematic and opportunistic FH detection [5–8]. However, this survey has highlighted GPs’ awareness and knowledge of some important aspects of FH were suboptimal. Professional interventions to improve GP knowledge and awareness need to be formulated in collaboration with primary care and specialists in lipidology and preventative cardiology. It will also be important to investigate the impact these interventions have on FH detection and management. Most GPs preferred interpretative comments on the laboratory forms to alert possible FH. Interpretative comments have previously been associated with greater LDL cholesterol reductions and increased specialist referral in individuals at high risk of FH [14]. One third of GPs preferred an informatics approach applied to the practice database to highlight individuals with potential FH, although predominantly combined with interpretative commenting. An informatics approach using the GP practice database to identifying individuals with FH has been described [15]. Grey et al. identified 402 individuals at high risk of FH, 20 individuals were confirmed to have definite or probable FH after review of the notes. However, only six individuals were unknown to the specialist lipid clinic, and they uncover multiple significant database transcription errors.
D.A. Bell et al.
In primary care the diagnosis of FH will be made clinically, with the Dutch Lipid Clinic Network criteria [5]. However, after specialist review and confirmation, these individuals may have genetic testing for FH mutations. Genetic testing individuals with clinically definite FH in Western Australia had a 70% mutation detection rate, allowing genotypic cascade screening to occur, which has been demonstrated to be cost effective elsewhere [16,17]. Most GPs identified the more effective cholesterol lowering treatments, which is encouraging as cardiovascular disease was the third most prevalent presentation to a GP [18]. Lipid lowering medications were prescribed in 3.7% of encounters [18]. GPs, knowledge and familiarity with lipid lowering medication is consistent with the previously marked LDL-c reductions demonstrated in individuals at high risk of FH [14]. However, this suggests that the difference between the large LDL-c reduction and low specialist referral rates, after highlighting the potential for FH on the lipid report, was due to low FH awareness [14]. The relatively low long-term statin adherence rates in Australia are a further concern, as low statin adherence would decrease the cardiovascular protection [19,20]. This is especially important in FH patients with a high CVD incidence. GPs are central to improving adherence to lipid lowering therapies [5,21]. Statin compliance has been demonstrated to be higher in individuals formally diagnosed with FH, reinforcing the benefit of formal FH diagnosis [22]. An accurate family history is integral to both CVD risk assessment and the diagnosis of FH [5]. Although, this is often neglected or poorly recorded in clinical practice, both in primary and tertiary care [23,24]. Collecting family history systematically using a self-administered questionnaire has been shown to significantly increase the number of individuals identified with high CVD risk, without increasing patient anxiety [24]. If family history was available to the laboratory, either provided on the request form or via a selfadministered questionnaire, an expert computer system could use this to identify individuals at high risk of FH, and then assist in selecting an age and gender appropriate interpretative comment. We have recently demonstrated that the more specific the interpretative comment, the greater the associated clinical impact [14]. Given that GPs preferred interpretative comments to alert them of the possibility of FH, appending a comment outlining the additional clinical information required to diagnose FH may improve FH detection. However, these points require formal investigation. The opportunistic selection of GPs represents a limitation of these findings. However, the demographics (gender, RACGP Fellowship and the metropolitan/regional practice distribution) of our sample are reasonably representative of the GP population in Australia [11,18].
Conclusion The majority of GPs considered they were the most effective health practitioners for managing FH, although GPs,
GP’s FH knowledge and practice
awareness of national guidelines and knowledge of hereditability, prevalence and diagnostic features of FH were suboptimal. Implementing a community model of care for FH requires more extensive GP education combined with interventions to highlight at risk individuals which should augment FH detection and help close this important gap in CVD prevention. Further work is required to formulate professional interventions to improve FH awareness and knowledge, and then to determine the effect these interventions have on actual FH detection and management.
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