ESTIMATING THE PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN ACUTE CORONARY SYNDROME: A SYSTEMATIC REVIEW AND META-ANALYSIS
CCC ePoster Library. Kramer A. 10/26/19; 280306; 248
Adam Kramer
Adam Kramer
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Abstract
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BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is one of the most common genetic conditions worldwide and an important cause of premature coronary artery disease. FH is substantially under-diagnosed and under-treated, worldwide. One method for increasing the diagnosis of FH is via opportunistic screening of individuals presenting with an acute coronary syndrome (ACS). The prevalence of FH in the ACS population has been assessed in numerous studies using various diagnostic criteria, and this has resulted in wide variability of prevalence estimates. The purpose of this study was to perform a systematic review and meta-analysis to provide a more robust estimate of the prevalence of FH in ACS.

METHODS AND RESULTS: We searched MEDLINE, EMBASE, Pubmed, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews to identify peer-reviewed articles reporting the prevalence of FH in ACS. We calculated pooled prevalence using a random effects model. When multiple diagnostic criteria were used in a single study, we gave priority to DNA-based criteria, followed by Dutch Lipid Clinic Network (DLCN) criteria. We also investigated the prevalence of FH in sub-analyses according to age and the diagnostic criteria used. The overall pooled prevalence of FH in ACS, derived from 21 studies, was 4.5% (95% CI 2.8% - 7.3%) (see Figure). DNA-based criteria and DLCN criteria provided similar estimates of 5.0% (95% CI 2.6% - 9.3%) and 5.3% (95% CI 2.7% - 10.2%), respectively. The prevalence was 7.0% (95% CI 4.8% - 10.2%) for individuals aged ≤60 years and increased to 13.7% (95% CI 8.2% - 22.1%) for individuals ≤45 years.

CONCLUSION: Approximately 1 in 22 ACS patients has FH, and this increases to 1 in 7 among those ≤45 years. These results suggest that screening patients with ACS for the presence of FH, especially younger patients, would have a high yield and could improve the diagnosis and treatment of this condition.
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is one of the most common genetic conditions worldwide and an important cause of premature coronary artery disease. FH is substantially under-diagnosed and under-treated, worldwide. One method for increasing the diagnosis of FH is via opportunistic screening of individuals presenting with an acute coronary syndrome (ACS). The prevalence of FH in the ACS population has been assessed in numerous studies using various diagnostic criteria, and this has resulted in wide variability of prevalence estimates. The purpose of this study was to perform a systematic review and meta-analysis to provide a more robust estimate of the prevalence of FH in ACS.

METHODS AND RESULTS: We searched MEDLINE, EMBASE, Pubmed, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews to identify peer-reviewed articles reporting the prevalence of FH in ACS. We calculated pooled prevalence using a random effects model. When multiple diagnostic criteria were used in a single study, we gave priority to DNA-based criteria, followed by Dutch Lipid Clinic Network (DLCN) criteria. We also investigated the prevalence of FH in sub-analyses according to age and the diagnostic criteria used. The overall pooled prevalence of FH in ACS, derived from 21 studies, was 4.5% (95% CI 2.8% - 7.3%) (see Figure). DNA-based criteria and DLCN criteria provided similar estimates of 5.0% (95% CI 2.6% - 9.3%) and 5.3% (95% CI 2.7% - 10.2%), respectively. The prevalence was 7.0% (95% CI 4.8% - 10.2%) for individuals aged ≤60 years and increased to 13.7% (95% CI 8.2% - 22.1%) for individuals ≤45 years.

CONCLUSION: Approximately 1 in 22 ACS patients has FH, and this increases to 1 in 7 among those ≤45 years. These results suggest that screening patients with ACS for the presence of FH, especially younger patients, would have a high yield and could improve the diagnosis and treatment of this condition.
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