Lipid profiles in a large cohort of Italian children with Down syndrome Paola Sabrina Buonuomo a, * , Andrea Bartuli a , Gerarda Mastrogiorgio a , Annachiara Vittucci b , Chiara Di Camillo b , Simona Bianchi b , Denise Pires Marafon c , Alberto Villani b , Diletta Valentini b a Rare Diseases and Medical Genetic Unit, Bambino Gesù Children’s Hospital, Rome, Italy b Pediatric and Infectious Disease Unit, Bambino Gesù Children’s Hospital, Rome, Italy c Rheumatology Unit, Bambino Gesù Children’s Hospital, Rome, Italy article info Article history: Received 20 April 2016 Received in revised form 15 June 2016 Accepted 20 June 2016 Available online 23 June 2016 Keywords: Down syndrome Lipids Cardiovascular disease Health supervision Prevention abstract Objectives: Results of epidemiological studies of lipid profiles in individuals with Down Syndrome (DS) in different settings showed discordant results but laboratory norms for this population has been lacking. The aim of our study is to evaluate lipid profiles in a large population of Italian children with DS. Methods: Lipid profiles of 357 patients with diagnosis of DS were recorded. RESULTS: Multiple linear regression was employed to estimate models for each lipid fraction as a function of sex and age in pa- tients with DS. Conclusions: The main contribution of this paper is to provide data about lipid profile on a large cohort of people with Down syndrome. Long-term surveillance will be crucial to establish if this specific lipid profile may translate into increased morbidity and mortality from cardiovascular diseases (CVD) © 2016 Elsevier Masson SAS. All rights reserved. 1. Introduction Down syndrome (DS) is the best known chromosomal disorder in humans and the most common cause of intellectual disability, occurring between 1 in 1000 to 1 in 1100 live births worldwide (Irving et al., 2008). Improved medical care during the last 10 years have led to an extraordinary increase of life expectancy with an estimated mean survival approaching the age of 60 years (WHO). The increased survival has also modified the incidence of chronic conditions such as obesity and insulin resistance, which are now more common among individuals with DS and are associated with unfavorable lipid profiles raising concerns about their long- term health and, in particular, the occurrence of non communi- cable diseases (NCD) such as atherosclerotic cardiovascular disease (CVD). In the past, individuals with DS were considered protected from atherosclerotic diseases and in 70’s some researchers suggested DS as an “atheroma-free” model of disease (Murdoch et al., 1977). In the 80’s and 90’s, results of epidemiological studies in different settings showed that, on the contrary, the risk of mortality from ischemic heart disease and cerebrovascular disease is higher in individuals with DS than in the general population (Englund et al., 2013). As known, unfavorable lipid profile may be related to increased risk of developing atherosclerotic CVD in the general population and establishing lipid profiles is crucial in order to define preven- tive strategies. Indeed, previous studies of lipid profiles in children with DS have produced inconclusive results (Adelekan et al., 2012; Zamorano et al., 1991). The aim of our study is to evaluate lipid profiles in a large population of Italian children with DS. 2. Materials and methods All patients with diagnosis of DS consecutively referred to our Hospital over the period December 2013eJuly 2015 were included in the study. Anthropometric measurements, comorbidity and family history, focused on Familial Dyslipidemia and/or Early Cardiovascular Dis- ease were collected for each patient. List of abbreviations: DS, Down Syndrome; CVD, Cardiovascular Disease; NCD, non communicable diseases; TC, total cholesterol; LDL-C, LDL cholesterol; HDL-C, HDL cholesterol; TG, triglycerides. * Corresponding author. E-mail address: psabrina.buonuomo@opbg.net (P.S. Buonuomo). Contents lists available at ScienceDirect European Journal of Medical Genetics journal homepage: http://www.elsevier.com/locate/ejmg http://dx.doi.org/10.1016/j.ejmg.2016.06.005 1769-7212/© 2016 Elsevier Masson SAS. All rights reserved. European Journal of Medical Genetics 59 (2016) 392e395