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A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH)

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Abstract

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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Acknowledgements

The authors thank all the staff and participants of this study for their important contributions.

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Authors and Affiliations

  1. Division 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

    Ye-Xuan Cao, Di Sun, Hui-Hui Liu, Jing-Lu Jin, Sha Li, Yuan-Lin Guo, Na-Qiong Wu, Cheng-Gang Zhu, Ying Gao, Qiu-Ting Dong, Geng Liu, Qian Dong & Jian-Jun Li

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  1. Ye-Xuan Cao
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  2. Di Sun
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Corresponding author

Correspondence to Jian-Jun Li.

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Funding

This work was supported by the Capital Health Development Fund (201614035) and Chinese Academy of Medical Sciences Major Collaborative Innovation Project (2016-I2M-1-011) awarded to Dr Jian-Jun Li, MD, PhD.

Conflict of interest

Ye-Xuan Cao, Di Sun, Hui-Hui Liu, Jing-Lu Jin, Sha Li, Yuan-Lin Guo, Na-Qiong Wu, Cheng-Gang Zhu, Ying Gao, Qiu-Ting Dong, Geng Liu, Qian Dong, and Jian-Jun Li declare that they have no conflicts of interest related to this study.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Data availability

All data generated or analyzed during this study are included in this published article and its supplementary information files.

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Cao, YX., Sun, D., Liu, HH. et al. A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH). Mol Diagn Ther 23, 547–553 (2019). https://doi.org/10.1007/s40291-019-00405-1

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