Phaeochromocytomas/paragangliomas and adverse clinical outcomes in patients with Neurofibromatosis type 1

Phaeochromocytomas/paragangliomas (PHAEO/PG) are linked to hereditary syndromes including Neurofibromatosis type 1 (NF-1). Current guidelines do not recommend biochemical screening for PHAEO/PG in asymptomatic or normotensive patients with NF-1. This strategy may miss preventable morbidities in those patients who ultimately present with symptomatic PHAEO/PG. Our aim was to review the literature and extract data on mode of presentation and the incidence of reported adverse outcomes.

PubMed and EMBASE literature search using the keywords 'Phaeochromocytoma', 'Paraganglioma' and 'Neurofibromatosis' was performed looking for reported cases from 2000 to 2018.

Seventy-three reports of NF-1 patients with PHAEO/PG were found. Patients were predominately women (n = 40) with a median age of 46 years (range 16-82). PHAEO/PG was found incidentally in most patients, 36/73 did not present with typical symptoms while 27 patients were normotensive at diagnosis. Thirty-one patients had adverse outcomes including metastases and death.

Given the protean presentation of PHAEO/PG, relying on symptomology and blood pressure status as triggers for screening, is associated with adverse outcomes. Further studies are required to ascertain whether biochemical screening in asymptomatic and normotensive patients with NF-1 can reduce the rate of adverse outcomes.