Open AccessA modified algorithm with lipoprotein(a) added for diagnosis of familial hypercholesterolemia
Author(s) -
Sun Di,
Cao YeXuan,
Li Sha,
Guo YuanLin,
Wu NaQiong,
Gao Ying,
Dong QiuTing,
Liu Geng,
Dong Qian,
Li JianJun
Publication year - 2019
Publication title -
clinical cardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.263
H-Index - 72
eISSN - 1932-8737
pISSN - 0160-9289
DOI - 10.1002/clc.23251
Subject(s) - familial hypercholesterolemia , medicine , concordance , apolipoprotein b , confidence interval , pcsk9 , lipoprotein , ldl receptor , population , family history , mutation , lipoprotein(a) , gastroenterology , cardiology , cholesterol , algorithm , gene , genetics , environmental health , biology , computer science
Background Previous studies have observed that high level of lipoprotein (a) [Lp(a)] was common in the phenotypic familial hypercholesterolemia (FH) and may explain part of the clinical diagnosis of FH. Hypothesis We aim to develop a modified model including Lp(a) and compare its diagnostic performance with Dutch Lipid Clinic Network (DLCN) criteria. Methods Data of 10 449 individuals were utilized for the model establishment (7806 for derivation and 2643 for validation) from January 2011 to March 2018. The novel score model was modified on the basis of DLCN. Furthermore, 718 patients were screened for LDLR , APOB , and PCSK9 gene mutations. Results The novel modified model consisted of untreated low‐density lipoprotein cholesterol (LDL‐C) level, Lp(a), personal premature coronary heart disease (CHD), tendon xanthomas and family history of CHD and/or hypercholesterolemia. It has shown high discrimination (area under curve [AUC] 0.991, 95% confidence interval [CI[ 0.988‐0.994, P < .001) for distinguishing clinical FH from non‐FH diagnosed using DLCN. Furthermore, a concordance analysis was performed to compare the modified model with DLCN and it showed a good agreement with DLCN ( κ = 0.765). External validation of the novel model also showed good accordance ( κ = 0.700). Further genetic analysis showed that the agreements between the new model and mutation improved a little compared to that between DLCN and mutation. Conclusions The novel modified model, including Lp(a), could provide new insights into FH diagnosis in Chinese population with more concerns on the patients with high level of Lp(a).