Endocrine Abstracts

Background: Phaeochromocytoma/paraganglioma (PCC/PGL) are rare in children and young people (CYP) under 19 years of age. National registry data reveal an annual incidence between 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition and can present a significant management challenge.

Aims: We aimed to provide the first interdisciplinary management guidelines using the AGREEII framework for CYP with confirmed or suspected PCC/PGL, and endorsed by the Royal College of Paediatrics and Child Health, UK Children’s Cancer & Leukaemia Group and the British Society for Paediatric Endocrinology & Diabetes.

Methods: A specialist Guideline Development Group (GDG) formulated 113 PICO clinical questions, and systematic literature searches were conducted via Ovid MEDLINE and Cochrane Library Databases, identifying 526 articles. 397 publications were reviewed using GRADE. A two-stage Delphi consensus process was conducted where evidence was lacking or conflicting in order to make recommendations.

Results: Thirty-nine recommendations spanning clinical assessment, investigations, medical/surgical management and long-term follow up of survivors are made. Importantly, the GDG recommend CYP with PCC/PGL are managed in a specialist endocrine centre, linked to tertiary paediatric oncology, by a designated, age-appropriate multi-disciplinary team and experienced lead clinician. Clinical assessment and a 3-generation family history should be targeted to identify genetically determined PCC/PGL, and genetic testing offered for all CYP with PCC/PGL after appropriate counselling. For CYP who undergo bilateral/completion adrenalectomy or cortical sparing surgery, peri-operative steroid replacement should be led by a nominated endocrinologist, and continued until adrenocortical reserve is tested post-operatively. All CYP diagnosed with PCC/PGL should have life-long follow up because of the propensity for new events.

Conclusions: These national guidelines provide the first evidence- and consensus-based recommendations for the management of PCC/PGL in CYP, and highlight a need for further audit and research in this rare, but potentially serious, condition. Their implementation should improve the quality of care and long-term health related survival of CYP with PCC/PGL.