Introduction: Revised Dutch Clinic Network Score criteria (rDLCNSc) are worldwide used to detect patients with familial hypercholesterolemia (FH). Various Pediatric Lipid Centers have experimentally adapted rDLCN criteria to pediatric age. The criteria included are: LDLcholesterol levels, presence of tendon xanthoma or corneal arcus, LDLcholesterol higher than 190 mg/dl in a parent/first degree relative (160 if aged less than 18 years), premature coronary artery disease (pCAD) in a parent /first degree relative. “Premature” is meant before 55 years if male and before 65 years if female. Score between 6 and 8 qualify for probable FH, higher than 8 for definite FH. Materials and methods: the aim of this study is to evaluate the efficacy of rDLCNc adapted for pediatric age to select pediatric patients for DNA mutational analysis for FH in patients referring to our Lipid Center. In a 12 months-period, 50 patients were referred to our Lipid Center for hypercholesterolemia. rDLCNc adapted for pediatric agewas calculated for each patient. 14/50 (28%) showed a score of 6 or higher and underwent genetic analysis for LDL-R mutation. 2 tests are still ongoing. Results: Among our 12 tested patients, 4/12 (33%) had a mutation of LDL-R gene. 7/12 (58%) had positive family history for hypercholesterolemia. 0/12 had positive pCAD in parents or first degree relatives, 6/ 12 (50%) had pCAD in second degree relatives. Out of the 4 patients with positive genetic test, 3/4 (75%) had pCAD in second degree relatives. Conclusions: rDLCNc adapted for pediatric is a useful tool to detect patients eligible for FH molecular diagnosis, especially in healthcare systems with limited genetic testing resources. As children's parents age is often lower than the threshold proposed for pCAD, they may not have had a pCAD yet. Considering pCAD also in second degree relatives (such as grandparents) might even improve this tool for FH detection in pediatric population
Revised Dutch lipid clinic network score criteria adapted for pediatric age: Evaluation of this tool in pediatric patients with hypercholesterolemia / Me, Capra; Biasucci, G. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 1590-3729. - ELETTRONICO. - 27:1(2017), p. e12. (Intervento presentato al convegno 30° Congresso Nazionale Società Italiana Studio Aterosclerosi tenutosi a Roma nel 22-23 Novemre 2016) [10.1016/j.numecd.2016.11.033].
Revised Dutch lipid clinic network score criteria adapted for pediatric age: Evaluation of this tool in pediatric patients with hypercholesterolemia
Biasucci G
2017-01-01
Abstract
Introduction: Revised Dutch Clinic Network Score criteria (rDLCNSc) are worldwide used to detect patients with familial hypercholesterolemia (FH). Various Pediatric Lipid Centers have experimentally adapted rDLCN criteria to pediatric age. The criteria included are: LDLcholesterol levels, presence of tendon xanthoma or corneal arcus, LDLcholesterol higher than 190 mg/dl in a parent/first degree relative (160 if aged less than 18 years), premature coronary artery disease (pCAD) in a parent /first degree relative. “Premature” is meant before 55 years if male and before 65 years if female. Score between 6 and 8 qualify for probable FH, higher than 8 for definite FH. Materials and methods: the aim of this study is to evaluate the efficacy of rDLCNc adapted for pediatric age to select pediatric patients for DNA mutational analysis for FH in patients referring to our Lipid Center. In a 12 months-period, 50 patients were referred to our Lipid Center for hypercholesterolemia. rDLCNc adapted for pediatric agewas calculated for each patient. 14/50 (28%) showed a score of 6 or higher and underwent genetic analysis for LDL-R mutation. 2 tests are still ongoing. Results: Among our 12 tested patients, 4/12 (33%) had a mutation of LDL-R gene. 7/12 (58%) had positive family history for hypercholesterolemia. 0/12 had positive pCAD in parents or first degree relatives, 6/ 12 (50%) had pCAD in second degree relatives. Out of the 4 patients with positive genetic test, 3/4 (75%) had pCAD in second degree relatives. Conclusions: rDLCNc adapted for pediatric is a useful tool to detect patients eligible for FH molecular diagnosis, especially in healthcare systems with limited genetic testing resources. As children's parents age is often lower than the threshold proposed for pCAD, they may not have had a pCAD yet. Considering pCAD also in second degree relatives (such as grandparents) might even improve this tool for FH detection in pediatric populationI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
