None listed
Conditions
Brief summary
Background: Familial hypercholesterolaemia (FH) is a generally unrecognised, inherited condition (prevalence 1:500-1:200) resulting in excessively high cholesterol levels in the bloodstream from birth, increasing the risk of heart attacks and angina by age 40 or earlier if left untreated. Affected individuals have a 50% chance of passing the condition onto their offspring. Only 15% of affected patients are diagnosed with 85% remaining at high risk of progressing to heart attacks and cardiovascular complications. Early diagnosis and treatment are very effective in preventing heart disease developing. Until recently FH has been managed mainly through hospital clinics. This WA-led national study trials an innovative primary care-based approach using clinical diagnostic criteria as per the Dutch Lipid Clinic Network Criteria (DLCNC) score rather than more expensive genetic testing. This new method of care will allow the condition to be managed predominantly by the patient’s General Practitioner (GP) and primary care team with support from the hospital specialist for more complex cases. Working with the GP, patient records are electronically screened to identify patients with possible FH before clinical examination to provide a definitive diagnosis. Once the first member of a family with the condition (index) is identified, the primary care team undertake family tracing/cascade testing of first-degree relatives to identify related FH patients. Primary Aims: 1) Increase in number of index cases clinically identified 2) Reduction in LDL-c of treated cases Secondary Aims: 1) Increase in the number of family cases detected/contacted (including children) 2) Evaluation of sustainability of method of care 3) Development of registry of FH patients Hypothesis: General practitioner (GP) - practice nurse (PN) led model of care improves the detection and management of FH in the community. Significance: Under a current model of care (MoC) for FH in Australia FH is diagnosed through a number of different routes and managed mainly through hospital-based lipid clinics undertaking genetic testing particularly if the clinical features (phenotype) are highly suggestive of FH. State and Federal Government policy is proposing to increase primary care management of most chronic conditions and the WA Health Department has initiated moves to re-locate the diagnosis and management of FH from the tertiary hospital sector to primary care. In Australia, over 81% of the population consult a GP annually. GP consultations therefore, offer a unique opportunity to help detect unknown index cases of FH in the community. Most of this work will be undertaken in the less expensive community setting of general practice using an electronic data extraction tool to retrospectively review patient records for FH.
Interventions
Using an electronic data extraction method (TARB-Ex) all active General Practice (GP) patients who have ever had a record of either total cholesterol greater than 7.0mmol/l or Low-Density Lipoprotein (LDL) cholesterol greater than 4.0mmol/l will be selected including those patients on medications to reduce cholesterol (statins). The extraction tool also has the ability to adjust the cholesterol levels of patients on cholesterol lowering medication (statins) using a standardising algorithm. There
Using an electronic data extraction method (TARB-Ex) all active General Practice (GP) patients who have ever had a record of either total cholesterol greater than 7.0mmol/l or Low-Density Lipoprotein (LDL) cholesterol greater than 4.0mmol/l will be selected including those patients on medications to reduce cholesterol (statins). The extraction tool also has the ability to adjust the cholesterol levels of patients on cholesterol lowering medication (statins) using a standardising algorithm. Therefore if the patient has been prescribed medication a pre-medicated LDL or total cholesterol can be estimated. Patients are considered to be on statins if prescription dates are within 1 week to 6 months of the date of cholesterol measurement. Information is also extracted on possible secondary causes of hypercholesterolaemia such as liver or renal disease, diabetes mellitus, steroid use or hypothyroidism. The screening tool detects potential for FH risk by calculating a modified Dutch Lipid Clinic Network Criteria score equal to 5. The GP/PN will then review the records flagged by TARB-Ex as possible FH cases and based on this review they will recall patients, via a telephone call and letter for further consultation. It will be up to the GPs discretion and professional opinion to ascertain what the specific needs are for each patient once the screening process is complete and potential FH patients are identified and recalled. In this process the GP can update family and personal history, exclude possible secondary causes, assess adherence to cholesterol lowering medications (if necessary) and undertake clinical examination. The GP will decide management of patients on a case by case basis. Family cascade screening will also be undertaken during this time. Initially the index case person will be asked if they consent to risk notification of first degree relatives. If this isn't agreed to the refusal will be accepted. If the patient agrees to the notification a letter and information sheet will be given to the family member/s and/or given to the index case to distribute to relatives. If no response is received within 2 weeks either another letter will be sent out or the GP or practice nurse will try to contact the family member/s via telephone. If after another 2 weeks (4 weeks total) there has been no response by family members it is assumed consent has not been given for cascade testing. If within the first 2 weeks contact is made by a family member the practice staff will confirm consent for testing and an initial consultation will be made. The family member will then receive counselling on FH and be treated as per their individual requirements at the discretion of the GP. All patients that present to the GP will be assessed for FH and if appropriate receive definitive diagnosis and specific cholesterol management. The study includes monitoring medical records of these patients for a period of 12 months post-diagnosis.
Sponsors
The University of Notre Dame Australia
Study design
Allocation
Non-randomised trial
Intervention model
Single group
Primary purpose
Treatment
Masking
Open (masking not used)
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
All patients from five participating GP clinics in Perth Western Australia, four in New South Wales, three in Queensland, two in Tasmania and one in Victoria, currently seeing registered GP in the last two years on at least one occasion will have records screened. All active patients who have ever had a record of either total cholesterol >7.0mmol/l or LDL-c >4.0mmol/l, including those patients on medications to reduce cholesterol (statins) will then be contacted by the GP for further examination and potential treatment.
Exclusion criteria
No diagnosis of Familial Hypercholesterolaemia.
Outcome results
None listed