Related Experiment Videos
Predicting genetically defined familial hypercholesterolemia with the FAMCAT algorithm in an Australian tertiary
Ralph K Akyea1, Dick C Chan2, Jing Pang2
1Centre for Academic Primary Care, School of Medicine, University of Nottingham, Nottingham NG7 2RD, UK (Akyea, Iyen, and Qureshi).
Journal of Clinical Lipidology
|August 10, 2026
Summary
The Dutch Lipid Clinic Network (DLCN) criteria are more effective than the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT) for identifying genetically confirmed familial hypercholesterolemia in Australian lipid clinics. Both tools can aid in prioritizing patients for further testing.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Clinical Diagnostics
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing premature coronary artery disease.
- The Dutch Lipid Clinic Network (DLCN) and Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT) are diagnostic aids for FH.
- FAMCAT's accuracy in tertiary care for genetically confirmed FH is not well-established.
Purpose of the Study:
- To evaluate the performance of the FAMCAT tool in identifying patients with genetically confirmed FH.
- To compare FAMCAT's accuracy against the DLCN criteria in an Australian tertiary lipid clinic setting.
Main Methods:
- A cross-sectional study involving 885 adult patients referred for FH genetic testing.
- Calculation of FAMCAT and DLCN scores for each patient.
- Discriminatory ability assessed using receiver operating characteristic (ROC) curve analysis (AUROC).
Main Results:
- 30% of patients (267/885) had genetically confirmed heterozygous FH.
- Both FAMCAT and DLCN scores significantly predicted FH-causing variants (P < .001).
- DLCN demonstrated superior performance with a higher AUROC (0.816) compared to FAMCAT (0.748), and better specificity and positive predictive value.
Conclusions:
- The DLCN criteria are more effective than FAMCAT for identifying FH genetic variants in this Australian tertiary lipid clinic.
- FAMCAT still shows good discriminatory accuracy and can assist in patient prioritization for genetic testing.
- Enhancing family history documentation could improve the diagnostic accuracy of both FH assessment tools.