Background The United States, and especially West Virginia, have a tremendous burden of coronary artery disease (CAD). Undiagnosed familial hypercholesterolemia (FH) is an important factor for CAD in the U.S. Identification of a CAD phenotype is an initial step to find families with FH. Objective We hypothesized that a CAD phenotype detection algorithm that uses discrete data elements from electronic health records (EHRs) can be validated from EHR information housed in a data repository. Methods We developed an algorithm to detect a CAD phenotype which searched through discrete data elements, such as diagnosis, problem lists, medical history, billing, and procedure (International Classification of Diseases [ICD]-9/10 and Current Procedural Terminology [CPT]) codes. The algorithm was applied to two cohorts of 500 patients, each with varying characteristics. The second (younger) cohort consisted of parents from a school child screening program. We then determined which patients had CAD by systematic, blinded review of EHRs. Following this, we revised the algorithm by refining the acceptable diagnoses and procedures. We ran the second algorithm on the same cohorts and determined the accuracy of the modification. Results CAD phenotype Algorithm I was 89.6% accurate, 94.6% sensitive, and 85.6% specific for group 1. After revising the algorithm (denoted CAD Algorithm II) and applying it to the same groups 1 and 2, sensitivity 98.2%, specificity 87.8%, and accuracy 92.4; accuracy 93% for group 2. Group 1 F1 score was 92.4%. Specific ICD-10 and CPT codes such as “coronary angiography through a vein graft” were more useful than generic terms. Conclusion We have created an algorithm, CAD Algorithm II, that detects CAD on a large scale with high accuracy and sensitivity (recall). It has proven useful among varied patient populations. Use of this algorithm can extend to monitor a registry of patients in an EHR and/or to identify a group such as those with likely FH.
Introduction: Electronic Health Records (EHRs) benefit record keeping, information collation, error prevention, and charge capture. They provide a large database of clinical information that can be used for research. Sorting vast amounts of data manually is inefficient, hence, an effectual, validated method is required to uncover information from large sets of data and generate knowledge. The U.S., and especially West Virginia, has a tremendous burden of cardiovascular disease (CVD). Undiagnosed Familial Hypercholesterolemia (FH) is an important factor for CVD in the U.S. FH results in elevated levels of LDL from childhood and early atherosclerotic disease. We are interested in better screening processes for FH. One method is to detect adults with coronary artery disease (CAD) and determine if their lipid levels are indicative of FH. Relatives and children can then be screened for FH and treated. Efficient identification of a CAD phenotype from EHRs is an important initial step in this screening process. Hypothesis: We hypothesized that a CAD phenotype detection algorithm that uses discrete data elements from EHRs can be validated as a precursor to detection of FH. Methods: We developed an algorithm to detect a CAD phenotype, which searched through discrete data elements, such as diagnoses lists (ICD-10) and procedure (CPT) codes. Direct inspection of EHR discrete data avoided the need for artificial intelligence, such as natural language processing. The algorithm was applied to a cohort of 1,000 patients with varying characteristics. We then determined which patients had CAD by systematically going through EHRs. Following this, we revised the algorithm by refining the constraints under which it operated. We ran the algorithm again on the same 1,000 patients, and determined the accuracy of the modified algorithm. Results: Manual validation of the 1,000 patients resulted in 413 with CAD and 587 without. The original algorithm distinguished 488 CAD positive patients and 512 CAD negative patients. This was 89% accurate, 96% sensitive, and 85% specific. After revising the algorithm and applying it to the same cohort, it determined that there were 474 CAD patients and 526 without CAD. This was 93% accurate, 99% sensitive, and 89% specific. Conclusion: EHR usage has created a large pool of minable clinical data. However, without an efficient method to obtain inferences from it, the information cannot be effectually utilized. We have created an algorithm that detects CAD on a large scale with high accuracy. It has proven to be useful among a varied patient population. Since the constraints that are used, such as ICD codes and CPT codes, are universal, it can be utilized across many hospital systems; although, local validation is prudent. Using this algorithm can select a population with a propensity for FH, thereby allowing us to screen and manage patients with undiagnosed FH or other familial dyslipidemias.
Introduction: West Virginia exhibits pervasive cardiovascular disease (CVD) that may relate to a combination of ancestry and shared environment in families, including vulnerabilities related to diet, physical activity and tobacco use. Coronary Artery Risk Detection in Appalachian Communities (CARDIAC) is a school-based child risk factor screening program that has evaluated over 90,000 WV fifth graders in the past 20 years. Reverse Cascade screening for Familial Hypercholesterolemia (FH) has been difficult with the CARDIAC population. The WVU CTSI Integrated Data Repository (IDR) includes over 2 million records. Hypothesis: Linkage of child CARDIAC data to parent IDR data will allow new information discovery to inform management of CVD. Methods: We used direct demographic data linkage via Oracle with Soundex conversion of names, in the IDR, to find parents of the CARDIAC participants. Data was analyzed in the VMWare SSL environment. Results: 4759 children have a parent(s) identified. 959 mothers and 524 fathers have an LDL level from IDR. Race, BMI and gender was recorded from CARDIAC. 6.8 % of children, 40% of mothers and 44.8% of fathers have an abnormal LDL level >130 mg/dl in IDR. Positive predictive value of the abnormal child lipid level (≥130 mg/dl) is 17% for some parent (56/325) to be abnormal. 4 parents had LDL >190 mg/dl with child > 160, indicating likely FH in the pair (2.7% of pairs or 1 in 371 pairs). Conclusion: Formation of a virtual cohort of CARDIAC children and parents allows Virtual Reverse Cascade Screening to find FH. This project highlights the importance of familial tendency to hyperlipidemia that can aid detection of early lipid abnormality and cardiovascular risk in children and their young parents to promote wellness and potentially avoid early coronary artery disease. We are constructing a virtual longitudinal cohort to study CVD in WV as a part of a Learning Health System in which data management is at the forefront of healthcare improvement.
Introduction: Coronary Artery Risk Detection in Appalachian Communities is a school-based cross-sectional screening program to detect significant cardiometabolic disease risk factors (CMRFs) in WV children. Fifth graders have undergone school screening for family history, anthropometrics and lipid panel values since 1999 including screening for Acanthosis Nigricans (AN Pos or Neg). Our hypothesis is that presence of AN can predict need to screen for CMRFs. Methods: Parental consent and child assent were obtained before screening day using an IRB-approved protocol. Height and weight were used to calculate BMI and BMI%ile. Systolic blood pressure over 95%ile, triglyceride over 150 mg/dl, HDL under 40 mg/dl and BMI over 95%ile were tabulated and correlated. Glucose and HOMA IR were only checked for AN Pos subjects and thus not considered in analysis. Results: 102,930 5 th graders participated in CARDIAC up to 2017. 101,101 had BMI determination, 100,000 blood pressures, 67,710 lipid panels were checked. 27.9% of children (28715) were obese, defined as BMI over 95%ile and 18.4% (18,931 subjects) were overweight. 10.8% of AN pos children vs. 1.9% of all children exhibited 4 CMRFs (Obese BMI, Htn, high TG, low HDL, OR 7.31, 95% CL 6.4-8.35). Conclusion: AN correlated to CMRF clustering but many CMRF pos subjects were AN Neg (79.5% or 1236/1555 of those with 4 CMRFs). Multifactoral screening of lipids, BMI, blood pressure are indicated to identify risk for cardiovascular disease.
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