Familial hypercholesterolemia (FH) is a relatively common Mendelian genetic disorder that is associated with elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and dramatically increased lifetime risk for premature atherosclerotic cardiovascular disease (ASCVD). FH can be diagnosed based on clinical presentation and/or genetic testing results, with a positive genetic testing considered to be the “gold standard”. Clinical diagnosis is based on a set of clinical criteria including lipid panel testing, personal and family history of hypercholesterolemia or premature ASCVD, presence of xanthomas on extensor tendons or thickening of the Achilles tendon, and early corneal arcus. We provide a pseudocode to identify cases and controls for primary hypercholesterolemia followed by FH. Structured data are processed using preset codes and unstructured data are processed using natural language processing (NLP). Final output consists of (i) a case/control/unknown status for primary hypercholesterolemia, (ii) demographics of each individual (age at the time of qualifying LDL-C ascertainment, gender, race/ethnicity), (iii) lipid profile (total cholesterol, LDL-C, HDL-C, triglycerides), (iv) lipid-lowering treatment and difference in time between the index date and date of treatment ascertainment, (v) personal history of premature ASCVD and/or hypercholesterolemia, (vi) family history of premature ASCVD, (vii) xanthomas and/or early corneal arcus, (viii) Dutch Lipid Clinic Network score and case/control/unknown for FH status.
Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia
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Thursday, November 10, 2016
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Safarova MS, Liu H, Arruda-Olson A, Rastegar M, Smith C, Cheng Y, Fan X, Balachandran P, Sohn S, Kullo IJ. Mayo Clinic. Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia. PheKB; 2016 Available from: https://phekb.org/phenotype/602