CARDIOVASCULAR RISK ASSESSMENT IN A COHORT OF CHILDREN WITH SEVERE PRIMARY HYPERCHOLESTEROLEMIA

Familial hypercholesterolemia (FH) is one of the most

common genetic dyslipidemias characterized by marked

hypercholesterolemia that exposes affected patients to a

high risk of cardiovascular disease (CVD). The

identification of cardiovascular risk factors starting from

pediatric age allows the identification of those FH

patients for whom earlier and more aggressive treatment

should be reserved, as they are exposed to a higher risk.

An observational analysis of a cohort of 126 children

and adolescents with FH has been conducted. The aim

is to define the main risk factors that can be identified

in pediatric age; the analyzed population has been

stratify according to the identified risk factors. The

first stratification was performed considering only

LDL-C values and the score given according to the

modified DLCN SCORE for Italian pediatric

population. subsequently have been added the most

significant risk factors identified: presence of CVD or

premature CVD (pCVD, before 55 and 60 years in

male and female, respectively) in first or seconddegree

relatives, Lp(a)>30mg/dl, overweight or

obesity, MTHFR TT genotype.

Considering only LDL-C values, patients were stratified

as follows: 25 at moderate risk, 16 at medium risk, 21 at

high risk, and 64 at very high risk. Adding up the

additional risk factors, patients were reclassified as: 19

moderate, 15 medium, 15 high risk, and 77 patients at

very high risk. Overall, by applying the proposed score

24 patients (19% of the cohort) were reclassified to a

higher risk class than using LDL-C value only.

Results suggest that a careful identification of risk factors could allow identifying patients who required more

aggressive treatment starting from pediatric age.