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Published on: September 15, 2018
A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH)
Ye-Xuan Cao1, Di Sun1, Hui-Hui Liu1
1Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, BeiLiShi Road 167, Beijing, 100037, China.
Insights
Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH) offers a simpler, effective method for diagnosing FH and preventing early coronary artery disease (CAD). This new system demonstrates high accuracy and ease of clinical use.
Area of Science:
- Cardiovascular Medicine
- Clinical Genetics
- Diagnostic Criteria Development
Background:
- Familial hypercholesterolemia (FH) is a significant risk factor for early-onset coronary artery disease (CAD).
- Existing diagnostic algorithms for FH are complex and often hindered by difficulties in obtaining family history information.
- There is a need for a more accessible and efficient diagnostic system for FH.
Purpose of the Study:
- To develop and validate a novel system of Simplified Chinese Criteria for FH (SCCFH).
- To evaluate the diagnostic performance of SCCFH compared to established criteria like the Dutch Lipid Clinic Network (DLCN) and Simon Broome (SB) criteria.
Main Methods:
- Recruited 12,921 participants for routine blood collection and clinical data acquisition.
- Utilized clinical characteristics, laboratory results, and genetic testing for FH diagnosis.
- Assessed the sensitivity, specificity, and agreement of SCCFH against DLCN and SB criteria.
Main Results:
- Prevalence of definite FH was 1.73% (DLCN), 1.56% (SB), and 1.59% (SCCFH) among 12,921 participants.
- SCCFH demonstrated high sensitivity (91.9% vs DLCN, 100% vs SB) and specificity (100% vs DLCN, 99.9% vs SB).
- SCCFH showed excellent agreement with both DLCN (κ=0.958) and SB (κ=0.993) criteria, consistent across subgroups.
Conclusions:
- The SCCFH system is a clinically practical tool comparable to existing criteria for diagnosing FH.
- SCCFH offers high sensitivity and specificity, simplifying clinical application.
- Further prospective studies are recommended to confirm the feasibility and reliability of SCCFH.
Background And Objective:
The most significant clinical implication of familial hypercholesterolemia (FH) is early-onset coronary artery disease (CAD), highlighting the importance of a definitive diagnosis being available. Unfortunately, the existing algorithms are complex and it is often difficult to obtain information on the patient's family history. Hence, we aimed to establish a novel system of Simplified Chinese Criteria for FH (SCCFH).
Methods:
We recruited 12,921 participants undergoing routine blood collection from November 2011 to June 2018. Clinical characteristics, laboratory examination, and genetic testing were obtained. FH was diagnosed based on the Simon Broome (SB) criteria, Dutch Lipid Clinic Network (DLCN) criteria, and SCCFH. The sensitivity, specificity, and agreement of SCCFH to these existing criteria were investigated.
Results:
Of 12,921 participants reviewed, the prevalence of definite FH was 223 (1.73%), 202 (1.56%), and 205 (1.59%) based on the DLCN, SB, and SCCFH approaches, respectively. Compared with the DLCN and SB criteria, the SCCFH showed high sensitivity (91.9% and 100%), high specificity (100% and 99.9%), and good agreement (κ = 0.958 and 0.993). Similar results were found in several relevant clinical subgroups.
Conclusions:
The SCCFH system is comparable to the existing criteria with high levels of sensitivity and specificity, and is easier to use clinically. Further larger prospective studies are needed to evaluate the feasibility and reliability of this system.
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