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Opportunistic screening for familial hypercholesterolaemia via a community laboratory
Damon A Bell1, Amanda J Hooper, Robert Bender
1Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, WA 6847, Australia. damon.bell1@yahoo.com
Insights
Community labs can screen for familial hypercholesterolaemia (FH). This inherited condition, marked by high LDL-cholesterol, is often undiagnosed. Early detection through LDL-cholesterol screening is key.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is an inherited condition causing high LDL-cholesterol and early heart disease.
- Most individuals with FH remain undiagnosed, highlighting a critical gap in detection.
- Community laboratories offer a potential avenue for opportunistic FH screening.
Purpose of the Study:
- To evaluate the capacity of a community laboratory to screen for potential familial hypercholesterolaemia (FH).
- To assess the prevalence of FH using established diagnostic criteria within a large-scale laboratory dataset.
Main Methods:
- Retrospective review of serum LDL-cholesterol concentrations from a Western Australian community laboratory (May 2010 - April 2011).
- Analysis of 99,467 LDL-cholesterol measurements from 84,823 individuals, primarily requested by general practitioners.
- Prevalence assessment using Make Early Diagnosis-Prevent Early Death (MED-PED), Simon Broome Registry, and Dutch Lipid Clinic Network criteria.
Main Results:
- The prevalence of FH, defined by LDL-cholesterol ≥6.5 mmol/L (99.75th percentile), was 1:398.
- Using MED-PED criteria, the FH prevalence was estimated at 1:482.
- Secondary causes of hypercholesterolaemia were identified in 8.3% of subjects with LDL-cholesterol ≥5.0 mmol/L.
Conclusions:
- Community laboratories are strategically positioned for opportunistic screening of potential familial hypercholesterolaemia (FH).
- Screening can be effectively performed using either MED-PED criteria or an LDL-cholesterol threshold of ≥6.5 mmol/L, regardless of patient age.
- Further research is needed to optimize identification methods and ensure specialist lipid clinic referrals.
Background:
Familial hypercholesterolaemia (FH) is an inherited disorder characterized by increased serum low-density lipoprotein (LDL)-cholesterol concentrations and premature atherosclerotic cardiovascular disease. The majority of people with FH are currently undiagnosed. We sought to determine the ability of a community laboratory to screen for individuals with potential FH.
Methods:
Serum LDL-cholesterol concentrations issued by a private community laboratory in Western Australia were reviewed over a one-year period (1 May 2010 to 31 April 2011). We assessed the prevalence of possible FH based on LDL-cholesterol thresholds employed by the Make Early Diagnosis-Prevent Early Death (MED-PED), the Simon Broome Registry and the Dutch Lipid Clinic Network criteria.
Results:
During this period, 84,823 people had 99,467 serum LDL-cholesterol measurements, with 91.8% requested by general practitioners. A secondary cause of hypercholesterolaemia was identified in 8.3% of subjects with an LDL-cholesterol ≥5.0 mmol/L. The prevalence of FH based on an LDL-cholesterol ≥6.5 mmol/L, the 99.75th percentile, was 1:398 in this sample population; similarly, the MED-PED LDL-cholesterol criteria gave a prevalence of 1:482.
Conclusions:
The community laboratory is well placed to screen opportunistically for subjects with potential FH. This may be achieved using either the MED-PED criteria or a serum LDL-cholesterol cut-off point of ≥6.5 mmol/L, irrespective of age. Further investigation is required to determine the most effective method of identifying these individuals and, thereby, ensuring referral to a specialist lipid clinic.
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