Health?Related Quality of Life in Youth with Hypercholesterolemia

Abstract

Research Question: Is the perceived quality of life different in youth <18 years?of?age with familial hypercholesterolemia (FH) compared to healthy peers?

Background and Significance: In the U.S. and developed countries, cardiovascular disease (CVD) is the #1 cause of death in adults. Children with FH, a genetic disorder of dysregulated low?density lipoprotein cholesterol (LDL?C) metabolism, have the highest risk of developing premature CVD. Over the past 25 years, there has been an increased awareness of the need to assess and, whenever possible, optimize an individual¿s quality of life. This is particularly compelling in children, who encounter medical conditions during a vulnerable time of cognitive and emotional development. The Pediatric Quality of Life Inventory (PedsQL®) has been shown to reliably measure Health Related Quality of Life (HRQOL) in healthy youth, and in youth with a wide variety of medical conditions, such as obesity, congenital heart and kidney disease. The PedsQL® questionnaire is a comprehensive and multidimensional instrument capable of quantitating physical, emotional and social well?being, as well as school functioning. Completion of the PedsQL® is validated in both written and electronic formats, and several languages, including English and Spanish. While previous research has shown that youth with medical conditions often score significantly lower on the PedsQL® than their healthy peers, no prior studies have evaluated HRQOL in youth with FH.

Materials and Methods: The PedsQL® 4.0 Generic Core Scales are multidimensional child self?report and parent proxy?report scales developed as the generic core measure to be integrated with the PedsQL® Disease?Specific Modules. The PedsQL® 4.0 Generic Core Scales consist of 23 items applicable for healthy school and community populations, as well as pediatric populations with acute and chronic health conditions. The scales measure physical, emotional, social, and school functioning. The R.E.A.C.H. (Risk Evaluation to Assess Cardiovascular Health) Clinic was established by Cook Children¿s Medical Center to better understand the cause(s) of premature CVD, including genetic and acquired forms of abnormal blood fats, elevated blood pressure, and weight?related health risks; developing effective means of prevention through health education, early detection of those at risk and timely treatment. The REACH clinic has a robust screening program, which has identified youth with FH. We compared the child self?report questionnaires of this population to published data of healthy peers.

Results: Children with hypercholesterolemia demonstrated a significant difference in their perceived HRQOL compared healthy peers; and similar to children with chronic illness. Additionally, the average parent?proxy scores in children with hypercholesterolemia were lower when compared to a healthy population.

Conclusion: Because the HRQOL assesses multidimensional well?being, an evaluation of these scores provide a comprehensive assessment of this vulnerable population. Although data are limited, an impaired HRQOL may be a risk factor for comorbid conditions. Furthermore, these data will help identify unmet needs beyond current recommendations for clinical care of youth with FH.