Pheochromocytoma screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohammed Abdelwahed M.D[2]

Overview

Familial pheochromocytoma is associated with multiple endocrine neoplasias, VHL and neurofibromatosis1 and should be screened by plasma fractionated metanephrines levels. The next step is to obtain 24-hour urinary fractionated metanephrine levels. Imaging should be considered if the initial tests are positive. Genetic testing also should be performed in high-risk patients.

Screening

  • According to the Endocrine Society, biochemical screening for pheochromocytoma in pediatric patients with VHL syndrome should be started at 5 years of age with biochemical surveillance every year for the rest of life. Anatomic imaging should be used when norepinephrine levels are elevated more than two times upper normal limits.[1]
  • For high-risk children, screening for pheochromocytoma should begin by 11 years of age. For moderate risk patients, screening should be started by 16 years of age. Plasma fractionated metanephrine level is the best test in this case. Normal values are enough to stop any further tests but if elevated results, 24-hour urinary fractionated metanephrines should be done. If positive, adrenal imaging (CT) or (MRI) should be performed.

Indications for genetic screening

References

  1. Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N; et al. (2015). "Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome.". J Clin Endocrinol Metab. 100 (12): 4498–504. PMC 4667160Freely accessible. PMID 26451910. doi:10.1210/jc.2015-3045. 
  2. Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH; et al. (2014). "Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.". J Clin Endocrinol Metab. 99 (6): 1915–42. PMID 24893135. doi:10.1210/jc.2014-1498. 

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