Screening Procedures Based in Modified Classification Trees Applied to Paediatric Familial Hypercholesterolemia

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

http://hdl.handle.net/10400.18/5611

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Abstract(s)

Introduction: Familial Hypercholesterolemia (FH) is a monogenic disorder of lipid metabolism, resulting in severe dyslipidemia and increased risk of cardiovascular disease. Simon Broome (SB) criteria for the diagnostic of FH are among the most frequently used in clinical setting, and are based on elevated total (CT) and low density lipoprotein (LDL-c) cholesterol levels, presence of tendinous xanthomas and family history, although only genetic testing can confirm the diagnostic. The main purpose of this work was to develop an alternative classification model for FH based on a modified version of the classic decision tree (DT), using several biochemical indicators as predictor variables: CT, LDL-c, high density lipoprotein cholesterol (HDL-c) and triglycerides (TG) concentrations. The DT model was fitted to sample data, and correspondent operating characteristics were compared to the ones obtained with the biochemical indicators used in SB criteria, through bootstrap resampling techniques.

Description

The research by João Albuquerque was supported by the programmme Norte2020 (operação NORTE-08-5369-FSE-000018); The research by Marília Antunes was supported by national funds through FCT under the project UID/MAT/00006/2013.

Keywords

Familial Hypercholesterolemia Dyslipidemia Decision Trees Simon Broome Criteria Operating Characteristics Doenças Cardio e Cérebro-vasculares Hipercolesterolemia Familiar