Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Oct;7(10):R254-R259.
doi: 10.1530/EC-18-0208.

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

A Al-Sharefi  1 , P Perros  1 , R A James  1
Affiliations
Review

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

A Al-Sharefi et al. Endocr Connect. 2018 Oct.

Abstract

Introduction: 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.

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

Results: 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.

Conclusion: 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.

Keywords: Phaeochromocytoma; neurofibromatosis-1; paraganglioma; screening.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Presenting symptoms which led to the diagnosis of PHAEO/PG in 73 patients with NF-1. Y-axis: reported symptoms, X-axis: number of patients.
See this image and copyright information in PMC

References

    1. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics 2009. 123 124–133. (10.1542/peds.2007-3204) - DOI - PubMed
    1. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Archives of Neurology 1988. 45 575–578. (10.1001/archneur.1988.00520290115023) - DOI - PubMed
    1. Walther MM, Herring J, Enquist E, Keiser HR, Linehan WM. Von Recklinghausen’s disease and pheochromocytomas. Journal of Urology 1999. 162 1582–1586. (10.1016/S0022-5347(05)68171-2) - DOI - PubMed
    1. Zinnamosca L, Petramala L, Cotesta D, Marinelli C, Schina M, Cianci R, Giustini S, Sciomer S, Anastasi E, Calvieri S, et al Nurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Archives of Dermatological Research 2011. 303 317–325. (10.1007/s00403-010-1090-z) - DOI - PubMed
    1. Kepenekian L, Mognetti T, Lifante JC, Giraudet Al, Houzard C, Pinson S, Borson-Chazot F, Combemale P. Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1. European Journal of Endocrinology 2016. 175 335–344. (10.1530/EJE-16-0233) - DOI - PubMed