373 The impact of hereditary haemorrhagic telangiectasia (HHT) on quality of life in children and associated outcome measures: a systematic review

Abstract

<h3>Aims</h3> <b><i>Objectives:</i></b> Hereditary Haemorrhagic Telangiectasia (HHT) is an uncommon genetic disorder associated with abnormal vasculature. The most common symptom is epistaxis and arteriovenous malformations can affect major organs. HHT displays age-related penetrance and is often not diagnosed until adulthood. Studies have shown that quality of life (QoL) is reduced in adult patients with HHT, but it is unclear if this is also true in children. Patient-reported outcome measures (PROMs) are validated instruments used to allow a standardised measurement of an individual’s self-perceived health-related quality of life. There is no consensus on a PROM for use in children with HHT. This review aims to examine the QoL of children with HHT and identify the tools used to measure this. <h3>Methods</h3> <b><i>Methods:</i></b> Systematic review of publications measuring QoL in children with HHT, guided by the PRISMA framework (PROSPERO ID CRD42021245561). Scopus, CINAHL, Web of Science, PsycINFO and EMBASE were searched up to December 2021. No filters on date or language were used. To be eligible publications had to contain original research including HHT patients aged 0-18 years and use a quality of life measure. Quality assessment of each included study was undertaken and tools evaluated using the COSMIN checklist. <h3>Results</h3> <b><i>Results:</i></b> 10 publications were eligible for inclusion (<b>figure 1)</b>. These studies were all published since 2007. These were all quantitative studies and only two studies had participants aged exclusively under 18 years. Half of the eligible studies included patients aged over 16 years only. Three studies compared the quality of life of HHT patients with normative populations. It was demonstrated that HHT patients had significantly reduced QoL in seven of the eight SF-36 domains (except bodily pain). There was insufficient data from children to establish correlation of QoL with disease activity or other factors. The most commonly used QoL instrument was the Short Form-36 (SF-36, n=3), a generic tool. EuroQol-5D is another generic questionnaire, used in two studies. Some symptom-specific instruments were also used; St. George’s Respiratory Questionnaire (n=2), three mental health scales and three different tools used to quantify the impact of epistaxis on QoL. Only one instrument identified was specific to children, the PedsQL 4.0, and none of the other tools have been validated for use in children. There were no outcome measures specific to HHT in children identified. <h3>Conclusion</h3> <b><i>Conclusion:</i></b> There exists a need for more research into QoL in children with HHT, especially in young children. There is insufficient data from paediatric studies to definitively show the impact of HHT on health-related QoL. There is a particular lack of qualitative studies in children. It is important that findings in adults are not inappropriately extrapolated to children. Recruitment and reporting of paediatric data in HHT clinical trials needs to be improved to enhance the research impact. Efforts should be made to develop and validate a QoL tool specific for children with HHT, which could become an outcome measure for patient care and research.