Endocrine Abstracts

Background: Phaeochromocytomas and paragangliomas have an annual incidence of 0.4-2 cases per million children. Inherited pathogenic variants in tumour suppressor genes are implicated in 70-80% of cases. Lifelong screening is recommended for asymptomatic variant carriers from childhood/early adulthood. We aimed to evaluate uptake of paediatric surveillance at Barts Health NHS Trust and gain insights into family perception of screening.

Methods: A retrospective audit analysed uptake and outcomes of annual surveillance offered to the paediatric cohort at Barts Health NHS Trust from January 2019-December 2024. A service evaluation questionnaire was sent to individuals aged 10-20 years and their parents.

Results: The audit comprised a population of 55 young people aged 5-19 years (from 32 families). Of these, 87% had heterozygous SDHB variants. This cohort demonstrated transmission ratio distortion for SDHx variants, with a transmission ratio of 0.76 (95% confidence interval: 0.64-0.85), higher than the expected 0.5. Annually, an average of 89% attended clinical reviews (face-to-face/telephone), 79% had metanephrine testing, and 89% underwent imaging. Two young people with SDHB variants had lesions identified on first screening. One was diagnosed with a retroperitoneal paraganglioma at 8.7 years, and the other with a phaeochromocytoma at 16.9 years. Both were managed with alpha-blocked resection, with no recurrences/metastases on six-monthly surveillance thereafter. Over this period, 27 of 202 scans conducted showed unrelated incidental findings (22 individuals), with 10 individuals undergoing further investigations and 1 requiring treatment. Service evaluation responses were received from 12 families (37.5%). Young people showed good awareness of the purpose of screening. They reported low levels of associated health anxiety (mean score 2.3/10). Parents reported higher levels of anxiety about their child’s health (mean score 5.3/10). Parents rated their child’s worry regarding different screening components higher than the young people scored themselves. Overall, satisfaction with screening was high for young people (mean 7.1/10) and parents (mean 8.3/10). Areas identified for development include the provision of clearer explanatory materials, reducing the interval between screening and results appointments, and increasing psychological support.

Conclusion: Within our cohort, annual screening was well-tolerated and demonstrated high compliance. Findings also emphasised the value of early surveillance.