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Published on: September 15, 2018
Interpretative comments specifically suggesting specialist referral increase the detection of familial
Robert Bender1, Glenn Edwards2, Jenny McMahon2
1Cardiometabolic Service, Royal Perth Hospital, Perth, WA, Australia.
Insights
Recommending Lipid Disorders Clinic referral for patients with high LDL-cholesterol significantly increased Familial Hypercholesterolemia (FH) detection. This targeted approach improved FH diagnosis rates in the community.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) is an underdiagnosed genetic disorder leading to premature cardiovascular disease due to high LDL-cholesterol.
- Current diagnostic pathways often miss FH cases, necessitating improved detection strategies.
Purpose of the Study:
- To evaluate if explicitly recommending referral to a Lipid Disorders Clinic (LDC) improves FH detection rates.
- To assess the impact of enhanced interpretative comments on lipid results for FH identification.
Main Methods:
- A prospective case-control study involving individuals with LDL-cholesterol ≥6.5 mmol/L.
- Cases received interpretative comments suggesting LDC referral, with a subset also receiving the LDC fax number.
- Controls received standard interpretative comments highlighting possible FH.
Main Results:
- Referral rates were significantly higher in the case group (18%) compared to controls (8%) (p=0.035).
- The case group yielded more FH diagnoses (possible, probable, and definite) than the control group.
- Genetic testing identified causative mutations in 42% of tested individuals.
Conclusions:
- Interpretative commenting that specifically recommends specialist review augments FH detection in the community.
- Targeted referral recommendations are effective in increasing the diagnosis of inherited hypercholesterolemia.
Abstract:
Familial hypercholesterolaemia (FH) is an under-diagnosed inherited condition characterised by elevated low density lipoprotein (LDL)-cholesterol and premature coronary artery disease. The requesting general practitioner of individuals with extremely elevated LDL-cholesterol measured by St John of God Pathology receives an interpretative comment on the lipid results highlighting possible FH. We sought to determine whether specifically recommending referral to the regional Lipid Disorders Clinic (LDC) increased referral and FH detection rates. A prospective case-control study of individuals with LDL-cholesterol ≥6.5 mmol/L was conducted. All individuals received an interpretative comment highlighting the possibility of FH. The cases comment also suggested LDC referral, and a subset of cases received the LDC's fax number (fax-cases) in addition. There were 231 individuals with an LDL-cholesterol ≥6.5 mmol/L; 96 (42%) controls and 135 (58%) cases, of which 99 were fax-cases. Twenty-four (18%) cases were referred to clinic compared with eight (8%) controls (p = 0.035). After specialist review and genetic testing, four probable and four definite FH individuals were detected amongst controls, compared with seven possible, eight probable and nine definite FH amongst cases. Genetic testing was performed in 31 (94%) individuals, 13 (42%) had a causative mutation identified. Interpretative commenting specifically recommending specialist review augments the detection of FH in the community.
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