IES2025 Research, Audit and Quality Improvement Projects E-Posters (60 abstracts)
Service evaluation of phaeochromocytoma and paraganglioma management: experience from a single centre
Aoife Courtney, 1 , Eibhlín Lonergan 1 , Stephen Ludgate 1 , Eirena Golden 1 , Sarah H Forde 2 , Emir Hoti 3 , Ruth Prichard 3 , Ingrid Browne 4 & Rachel K Crowley 1,2
1Department of Endocrinology and Diabetes Mellitus, St Vincent’s University Hospital, Dublin; 2Rare Disease Clinical Trial Network, University College Dublin, Dublin; 3Department of Surgery, St Vincent’s University Hospital, Dublin; 4Department of Anaesthesiology, St Vincent’s University Hospital, Dublin
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours arising from chromaffin cells. These tumours commonly secrete catecholamines and, if untreated, are associated with significant cardiovascular morbidity and mortality. This service evaluation aimed to describe the clinical and genetic characteristics of patients with PPGLs attending our centre. We conducted a retrospective observational study at a tertiary Irish hospital, including all patients diagnosed with PPGL or under surveillance for a genomic variant known to predispose to PPGL who attended between 2015 and 2024. Clinical and genetic data were extracted from medical records and the Clinical Portal laboratory information system. A total of 108 patients were included: 52 (48.1%) had adrenal phaeochromocytoma, 39 (36.1%) had extra-adrenal paraganglioma, and 17 (15.7%) were under surveillance for a known pathogenic variant. The mean age was 53.6 years (±18.2), and 56 (51.9%) were female. Referral indications included incidental imaging (25.9%), symptomatic presentation (11.1%), post-operative diagnosis (3.7%), external referral (17.6%), and genetic surveillance (24.1%). Nineteen patients (17.6%) were under long-term follow-up for previously diagnosed PPGL. A positive family history was reported in 35 patients (32.4%), across 11 kindreds. Germline variations were identified in SDHB (30.6%), SDHD (2.8%), and TMEM 127 (1.9%); syndromic associations included MEN2A (1.9%), MEN2B (2.8%) and VHL (4.6%). Forty-five (41.7%) patients underwent surgical resection within the study period with 34 (31.5%) having undergone preoperative alpha blockade in our centre. This study provides a descriptive profile of a PPGL cohort in an Irish tertiary referral centre, highlighting the range of presentations and underlying genetic findings.
Volume 115
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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