Alistair Vickery

Optimising the Detection and Management of Familial Hypercholesterolaemia: Central Role of Primary Care and its Integration with Specialist Services

Familial hypercholesterolaemia (FH) is the most common monogenic lipid disorder associated with premature coronary heart disease (CHD). However, the majority of people with FH are undiagnosed or undertreated. Early cholesterol lowering therapy reduces cardiovascular disease mortality in FH. Low awareness and knowledge of FH in specialty and general practice highlights the need for strategies to improve the detection and management of FH. We present an algorithm describing a multidisciplinary approach to FH detection and management. We highlight the role of primary care, and where GPs can work with preventive cardiologists to improve care of FH. Novel strategies to detect index cases with FH are presented including the community laboratory, highlighting patients at high risk of FH, and targeted FH detection through searching the general practice database. General practitioners request over 90% of LDL cholesterol measurements in the community. Once an individual with FH is detected only a small proportion of patients require specialty management with the majority of patients suitably managed in primary care. However, it is crucial to screen family members, as 50% of first-degree family members are expected to have FH due to the autosomal dominant inheritance.

Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods

BACKGROUND Familial hypercholesterolaemia (FH), a co-dominantly inherited disease of cholesterol that markedly increases risk of premature coronary artery disease (CAD), is significantly under-diagnosed. Primary health care is increasingly seen as a setting in which to increase the detection rate of index cases. We report a prospective study of three methods of case detection using pre-existing primary health care services in one community. METHODS Three methods of case detection were tested: pathology laboratory database search, workplace health checks and general practice database search. People identified at risk by each of the three screening methods were offered detailed assessment for FH using the Dutch Lipid Clinic Network Criteria score (DLCNCS). RESULTS 1316 participants underwent detailed assessment for FH. The proportion of at risk people identified for further assessment was in decreasing order: GP (659 of 2494, 26.4%), workplace assessment (60 of 268, 22.4%) and pathology database (597 of 4517, 13.2%) p<0.001. Eight-six (6.5%) were identified as clinical FH (DLCNCS>5) of which 59 had genetic testing and 11 of 59, 18.6%, were confirmed to have a mutation causing FH. Pathology database detected the greatest number of clinical FH (51 of 86, 59.3%) and mutation positive participants (8 of 11, 72.7%). CONCLUSION Screening within primary health care was successful in detecting participants with FH. An integrated case detection model combining screening of pathology and GP databases is proposed.

Challenges in the care of familial hypercholesterolemia: a community care perspective

Familial hyperchoelsterolaemia (FH) remains under-diagnosed and under-treated in the community setting. Earlier evidence suggested a prevalence of 1:500 worldwide but newer evidence suggests it is more common. Less than 15% of FH patients are ever diagnosed, with children and young adults rarely tested despite having the most to gain given their lifetime exposure. Increasing awareness among primary care teams is critical to improve the detection profile for FH. Cascade testing in the community setting needs a sustainable approach to be developed to facilitate family tracing of index cases. The use of the Dutch Lipid Clinic Network Criteria score to facilitate a phenotypic diagnosis is the preferred approach adopted in Australia and eliminates the need to undertake genetic testing for all suspected FH cases.

Evaluation of the first pharmacist-administered vaccinations in Western Australia: a mixed-methods study

Objectives This study evaluated the uptake of Western Australian (WA) pharmacist vaccination services, the profiles of consumers being vaccinated and the facilitators and challenges experienced by pharmacy staff in the preparation, implementation and delivery of services. Design Mixed-methods methodology with both quantitative and qualitative data through surveys, pharmacy computer records and immuniser pharmacist interviews. Setting Community pharmacies in WA that provided pharmacist vaccination services between March and October 2015. Participants Immuniser pharmacists from 86 pharmacies completed baseline surveys and 78 completed exit surveys; computer records from 57 pharmacies; 25 immuniser pharmacists were interviewed. Main outcome measures Pharmacy and immuniser pharmacist profiles; pharmacist vaccination services provided and consumer profiles who accessed services. Results 15 621 influenza vaccinations were administered by immuniser pharmacists at 76 WA community pharmacies between March and October 2015. There were no major adverse events, and <1% of consumers experienced minor events which were appropriately managed. Between 12% and 17% of consumers were eligible to receive free influenza vaccinations under the National Immunisation Program but chose to have it at a pharmacy. A high percentage of vaccinations was delivered in rural and regional areas indicating that provision of pharmacist vaccination services facilitated access for rural and remote consumers. Immuniser pharmacists reported feeling confident in providing vaccination services and were of the opinion that services should be expanded to other vaccinations. Pharmacists also reported significant professional satisfaction in providing the service. All participating pharmacies intended to continue providing influenza vaccinations in 2016. Conclusions This initial evaluation of WA pharmacist vaccination services showed that vaccine delivery was safe. Convenience and accessibility were important aspects in usage of services. There is scope to expand pharmacist vaccination services to other vaccines and younger children; however, government funding to pharmacists needs to be considered.

Increasing the Detection of Familial Hypercholesterolaemia Using General Practice Electronic Databases

BACKGROUND Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10-15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice OBJECTIVE: To determine whether a simple electronic extraction tool can increase detection of FH in general practice. METHOD An extraction tool applied to general practice electronic health records (EHR) to screen for FH, total cholesterol and low density lipoprotein cholesterol (LDL-c) levels in association with entered diagnostic criteria and demographic data in five general practices. RESULTS Of 157,290 active patients examined, 0.7% (n=1081) had an LDL-c>5.0 mmol/L representing 1 in 146 of active patients. An additional 0.8% (n=1276) patients were at possible risk of FH. Of those with an LDL-c>5.0 mmol/L 43.7% of patients had no record of being prescribed statins. Twenty patients (0.013%) had a clinical diagnosis of FH entered in the EHR. CONCLUSIONS Patients at high risk of FH can be identified by a simple electronic screening method in general practice. Clinical data entry is variable in general practice. Targeted screening enables clinical assessment of patients at risk of cardiovascular disease and using the DLCNS will enable primary care to increase identification of FH. Approximately one in five patients extracted using this method, are likely to have phenotypically probable FH, making it a useful screening tool.

The ratchet effect: dramatic and sustained changes in health care utilization following admission to hospital with chronic disease.

Objective:To describe the previously unexamined association between admissions to hospital with chronic disease and changes in all-cause health service utilization over time. Research Design:A cohort study examining the population of Western Australia with hospitalizations for chronic disease from 2002 to 2010. A “rolling” clearance period is used to define “cardinal events,” that is, a disease-specific diagnosis upon hospital admission, where such an event has not occurred in the previous 2 years. Changes in the rate of cardinal events associated with diagnoses of heart failure, type 2 diabetes, chronic obstructive pulmonary disease, cataract with diabetes, asthma, and dialysis are examined. Health service utilization (defined as inpatient days or emergency department presentations) 6 years preceding and 4 years following such events is presented. Results:Cardinal events make up 40%–60% of all chronic disease admissions. A previously undescribed ratchet effect following cardinal events specifically associated with type 2 diabetes, heart failure, and chronic obstructive pulmonary disease is observed. This involves a 2- to 3-fold increase in inpatient days and emergency department presentations that are sustained for at least 4 years. Conclusions:Cardinal events represent an important reference point to understand the impact of chronic disease on health service utilization. Events that herald such a marked transition in health service demand have not been previously described.

The Ecological Fallacy of the Role of Age in Chronic Disease and Hospital Demand

Objective:To examine the relationship between age and all-cause hospital utilization in the years preceding and following a diagnosis in hospital of heart failure, type 2 diabetes, or chronic obstructive pulmonary disease (COPD). Research Design:A cohort study of all patients in Western Australia who have had a principal diagnosis of heart failure, type 2 diabetes, or COPD, upon admission to hospital. All-cause hospital utilization 6 years preceding and 4 years following cardinal events, that is, a disease-specific diagnosis upon hospital admission, where such an event has not occurred in the previous 2 years, are examined in specific age groups. Results:Six years preceding a cardinal event, all-cause emergency department (ED) presentations are similar in all age groups, from under 55 to over 85 years of age, except in COPD where ED presentation rates are higher in younger groups. All-cause hospital inpatient days are transiently higher in the years preceding and following a cardinal event in older age groups, yet return to similar levels across all age cohorts after 4 years. ED presentations are significantly higher in the 4 years following cardinal events in younger compared with older groups. Conclusions:Longitudinal analysis of utilization around cardinal events overcomes the confounding effect of differences in chronic disease rates between age groups, avoiding a source of ecologic bias that erroneously attributes increasing utilization in individuals with chronic disease to age. Programs designed to reduce hospital demand in patients with chronic disease should possibly focus on younger, rather than older, individuals.

Detection and management of familial hypercholesterolaemia in primary care in Australia: protocol for a pragmatic cluster intervention study with pre-post intervention comparisons

Introduction Familial hypercholesterolaemia (FH), an autosomal dominant disorder of lipid metabolism, results in accelerated onset of atherosclerosis if left untreated. Lifelong treatment with diet, lifestyle modifications and statins enable a normal lifespan for most patients. Early diagnosis is critical. This protocol trials a primary care-based model of care (MoC) to improve detection and management of FH. Methods and analysis Pragmatic cluster intervention study with pre-post intervention comparisons in Australian general practices. At study baseline, current FH detection practice is assessed. Medical records over 2 years are electronically scanned using a data extraction tool (TARB-Ex) to identify patients at increased risk. High-risk patients are clinically reviewed to provide definitive, phenotypic diagnosis using Dutch Lipid Clinic Network Criteria. Once an index family member with FH is identified, the primary care team undertake cascade testing of first-degree relatives to identify other patients with FH. Management guidance based on disease complexity is provided to the primary care team. Study follow-up to 12 months with TARB-Ex rerun to identify total number of new FH cases diagnosed over study period (via TARB-Ex, cascade testing and new cases presenting). At study conclusion, patient and clinical staff perceptions of enablers/barriers and suggested improvements to the approach will be examined. Resources at each stage will be traced to determine the economic implications of implementing the MoC and costed from health system perspective. Primary outcomes: increase in number of index cases clinically identified; reduction in low-density lipoprotein cholesterol of treated cases. Secondary outcomes: increase in the number of family cases detected/contacted; cost implications of the MoC. Ethics and dissemination Study approval by The University of Notre Dame Australia Human Research Ethics Committee Protocol ID: 0 16 067F. Registration: Australian New Zealand Clinical Trials Registry ID: 12616000630415. Information will be disseminated via research seminars, conference presentations, journal articles, media releases and community forums. Trial registration number Australian New Zealand Clinical Trials Registry ID 12616000630415; Pre-results.

Hospital use in Aboriginal and non-Aboriginal patients with chronic disease

The objective of this study was to compare rates of hospital utilisation in Aboriginal and non‐Aboriginal peoples before and after hospital admission for chronic obstructive pulmonary disease, heart failure and/or type 2 diabetes mellitus.

Eight challenges faced by general practitioners caring for patients after an acute coronary syndrome

The general practitioner is essential in the management of the patient who has recently been discharged from hospital following an acute coronary syndrome (ACS), particularly as duration of hospital stay is shorter than in previous decades. GPs caring for patients after an ACS face numerous challenges. Often, the first of these is insufficient or delayed documentation from the discharging hospital, although electronic discharge summaries are alleviating this problem. Post‐ACS patients often have comorbidities, and GPs play a key role in managing these. Patients taking dual antiplatelet therapy who need surgery, and post‐ACS patients with atrial fibrillation, require particular care from GPs. Patients will often approach their GP for advice on the safety of other drugs, such as smoking cessation medication, and phosphodiesterase type 5 inhibitors for erectile dysfunction. For patients complaining of persistent lethargy after an ACS, GPs must consider several differential diagnoses, including depression, hypotension, hypovolaemia, and side effects of β‐blockers. GPs play an important ongoing role in ensuring that target cholesterol levels are reached with statin therapy; this includes ensuring long‐term adherence. They may also need to advise patients who want to stop statin therapy, usually due to perceived side effects. Many of these challenges can be met with improved and respectful communication between the hospital, the treating cardiologist and the GP. The patient needs to be closely involved in the decision‐making process, particularly when balancing the risks of bleeding versus thrombosis.