Classification Methods Applied to Familial Hypercholesterolemia Diagnosis at Pediatric Age: Comparison of Simon Broome Criteria with Modified Decision Tree Models

Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Antunes, Marília; Bourbon, Mafalda

http://hdl.handle.net/10400.18/7719

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Authors

Albuquerque, João

Medeiros, Ana Margarida

Alves, Ana Catarina

Antunes, Marília

Bourbon, Mafalda

Abstract(s)

Introduction: Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism, resulting in severe dyslipidemia and increased CVD risk. Simon Broome (SB) criteria for the diagnostic of FH are among the most frequently used in clinical setting, and are based on elevated total cholesterol (TC) and low density lipoprotein (LDLc) cholesterol levels, presence of tendinous xanthomas and family history [1]. The molecular diagnosis that confirms this diagnosis reveals, however, a high false positive rate when following these criteria, which can represent a heavy burden in terms of healthcare costs. The main purpose of this work was to develop alternative classification models for FH diagnosis, based on different decision tree (DT) algorithms, using commonly available biochemical markers as predictors.