Dietary Treatment of Heterozygous Familial Hypercholesterolemia and Quality of Life: A qualitative interview study on the perspectives of adolescents and young adults

Abstract

Background: Heterozygous Familial Hypercholesterolemia (FH) is an autosomal dominant disease, caused by mutations in LDLR, APOB or PCSK9, which results in high levels of LDL-cholesterol. Inheriting this mutation involves increased risk of premature coronary heart disease and a need for lifelong treatment. Early initiation of treatment is recommended. The treatment consists of drug therapy and dietary modifications for a cholesterol-lowering diet. Adolescence could represent a vulnerable period, where living with dietary restrictions due to a genetic predisposition could be challenging in an age-specific way. Little is known about how adolescents and young adults experience the dietary treatment of FH. Aims: The purpose of this study was to contribute to knowledge about how adolescents and young adults with FH experience living with dietary restrictions; to what degree and in which way this affects their quality of life (QOL). This study focused on the participants perspectives on FH, dietary treatment and impact on QOL. Subjects and methods: 13 young participants aged 16-25 with FH were recruited from the outpatient Lipid Clinic at the Oslo University hospital. In-depth interviews were transcribed verbatim and analyzed qualitatively using the principles of grounded theory. Result/Implications: The findings of this study revealed that the adolescents and young adults did not consider the FH diagnosis and dietary treatment to have an overall impact on QOL, they did however describe some challenges. Using grounded theory and through open, focused and thematic coding, the analysis of interviews identified certain aspects as important to the experience of dietary treatment. The aspects FH readiness, Social consideration, Food enjoyment, Practicalities and Consequences are presented in an integrated figure. The findings suggest that health care professionals should take special care to consider the context when consulting adolescents with FH.