The importance of pheochromocytoma case detection in patients with neurofibromatosis type 1: A case report and review of literature.

Autor:	Tate JM; Endocrinology Service, Department of Medicine, San Antonio Military Medical Center, San Antonio, TX, USA., Gyorffy JB; Department of Internal Medicine, San Antonio Military Medical Center, San Antonio, TX, USA., Colburn JA; Endocrinology Service, Department of Medicine, San Antonio Military Medical Center, San Antonio, TX, USA.
Jazyk:	angličtina
Zdroj:	SAGE open medical case reports [SAGE Open Med Case Rep] 2017 Nov 16; Vol. 5, pp. 2050313X17741016. Date of Electronic Publication: 2017 Nov 16 (Print Publication: 2017).
DOI:	10.1177/2050313X17741016
Abstrakt:	Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%-5.7% versus 0.2%-0.6%, respectively. A delay in pheochromocytoma and paraganglioma diagnosis or undiagnosed pheochromocytoma and paraganglioma, as seen in normotensive and asymptomatic patients, may portend a significant morbidity and mortality risk due to excess catecholamine secretion. Currently, there are no generally accepted guidelines of screening for pheochromocytoma and paragangliomas in asymptomatic individuals of this population with approaches and practices varying considerably between physicians. Emerging data suggest benefit in routine pheochromocytoma and paraganglioma screening of all individuals with neurofibromatosis type 1. Herein, we present a case to highlight how routine case detection screening would have identified pheochromocytoma earlier in an active duty military member. Competing Interests: Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Databáze:	MEDLINE
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