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Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.


ABSTRACT: BACKGROUND:Patients with monogenic familial hypercholesterolemia (FH) have high risk for coronary artery disease (CAD). A recent FH Expert Panel suggested that FH was underdiagnosed and undertreated which needs early diagnosis. Moreover, the proportion of DNA-confirmed FH patients hospitalized with very early-onset (??35 years) CAD remains uncertain. METHODS:One hundred and five patients with age???35 years and LDL-C???3.4 mmol/L were tested for 9 genes (LDLR, APOB, PCSK9, APOE, STAP1, LIPA, LDLRAP1, ABCG5/8). Dutch Lipid Clinic Network (DLCN) and Simon Broome (SB) criteria for FH were also performed. RESULTS:The prevalence of genetically confirmed FH was 38.1% (n?=?40) in 105 patients. DLCN categorized 26.7% patients to probable and definite FH while SB identified 17.1% of patients with possible to definite FH. Twenty-five (62.5%) and seventeen (42.5%) patients with pathogenic mutations were undiagnosed according to SB and DLCN criteria. FH variant carriers, especially homozygotes, had significantly higher plasma LDL-C levels. The best LDL-C threshold for genetically confirmed FH was 4.56 mmol/L in the present study. CONCLUSIONS:FH is really a common cause for very young CAD patients (??35 years) with a 38.1% of causative mutations in China and best LDL-C threshold for predicting mutations was 4.56 mmol/L. The underdiagnostic rate of clinical criteria was around 42.5-62.5%, suggesting that the expanded genetic testing could indeed promote the diagnosis of FH.

SUBMITTER: Cao YX 

PROVIDER: S-EPMC6288904 | biostudies-other | 2018 Dec

REPOSITORIES: biostudies-other

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Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao Ye-Xuan YX   Wu Na-Qiong NQ   Sun Di D   Liu Hui-Hui HH   Jin Jing-Lu JL   Li Sha S   Guo Yuan-Lin YL   Zhu Cheng-Gang CG   Gao Ying Y   Dong Qiu-Ting QT   Liu Geng G   Dong Qian Q   Li Jian-Jun JJ  

Journal of translational medicine 20181210 1


<h4>Background</h4>Patients with monogenic familial hypercholesterolemia (FH) have high risk for coronary artery disease (CAD). A recent FH Expert Panel suggested that FH was underdiagnosed and undertreated which needs early diagnosis. Moreover, the proportion of DNA-confirmed FH patients hospitalized with very early-onset (≤ 35 years) CAD remains uncertain.<h4>Methods</h4>One hundred and five patients with age ≤ 35 years and LDL-C ≥ 3.4 mmol/L were tested for 9 genes (LDLR, APOB, PCSK9, APOE, S  ...[more]

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