Abstract
IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment. We aimed to review the literature on Health-related Quality of Life in children and adolescents with congenital hyperinsulinism and summarize the findings.Materials and MethodsFor this scoping review, a literature search was conducted in PubMed and Web of Science in May 2021. Inclusion and exclusion criteria for the selection of articles were defined a priori.ResultsTwo hundred and forty-five (245) articles were identified through the search and screened on the basis of title and abstract. The full texts of forty articles were then assessed. Finally, four articles (published 2012-2020) describing Health-related Quality of Life in children and adolescents with congenital hyperinsulinism were included. The study designs were heterogeneous and included cross-sectional observational studies (n=2), clinical trials (n =1), and case reports (n=1) with different sample sizes. Three studies were conducted in European countries and one in Japan. The results for Health-related Quality of Life revealed inconsistencies.ConclusionThere are only a few studies looking at Health-related Quality of Life in children and adolescents with congenital hyperinsulinism. To gain a comprehensive understanding of the impact of congenital hyperinsulinism on Health-related Quality of Life in children and adolescents, it is necessary to use both generic and condition-specific instruments to measure Health-related Quality of Life of young patients in larger samples, to collect longitudinal data, and to consider qualitative research approaches.
Highlights
Despite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment
Oral diazoxide, the only drug for long-term treatment of hyperinsulinemic hypoglycaemia approved by the Food and Drug Administration (FDA), can lead to varying side effects such as excess hair growth, poor appetite, and fluid retention [5]
In the absence of a review on Health-related Quality of Life (HrQoL) in children and adolescents with CHI, this article aims to provide an overview of the current literature with the aim to improve our understanding of HrQoL in young CHI patients and to enhance the appropriate use of HrQoL instruments in research and practice
Summary
Despite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment. We aimed to review the literature on Health-related Quality of Life in children and adolescents with congenital hyperinsulinism and summarize the findings. Oral diazoxide, the only drug for long-term treatment of hyperinsulinemic hypoglycaemia approved by the Food and Drug Administration (FDA), can lead to varying side effects such as excess hair growth, poor appetite, and fluid retention [5]. Dietary management may be required for reliable glucose delivery and the prevention of hypoglycaemia. Feeding problems such as difficulty in swallowing, vomiting, and refusal to eat can complicate the management of hypoglycaemia, making tube feeding necessary [6]
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