Pheochromocytoma secondary prevention

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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

Effective measures for the secondary prevention of pheochromocytoma include biochemical screening for family members of MEN2 patients is mandatory and Genetic testing in first-degree relatives of a patient with proven germline RET mutation.

Secondary Prevention

Biochemical screening

  • According to the Endocrine Society, biochemical screening for pheochromocytoma in recommended among patients with:
    • VHL syndrome- started at 5 years of age with biochemical surveillance every year for the rest of life.
    • Signs or symptoms suggesting catecholamine excess, especially if the symptoms are paroxysmal.
    • Unexpected blood pressure changes to drugs, surgery, or anesthesia
    • Unexplained blood pressure variability
    • Incidentaloma, even if the patient is normotensive
    • Blood pressure that is difficult to control
    • History of previous treatment for pheochromocytoma or paraganglioma
    • Hereditary risk of pheochromocytoma or paraganglioma in family members
    • Syndromic features relating to a pheochromocytoma-related hereditary syndromes [1]
  • Plasma fractionated metanephrine level is the best test. If elevated, 24-hour urinary fractionated metanephrines should be done.

Imaging screening

Anatomic imaging should be used when norepinephrine levels are elevated more than two times upper normal limits.[2]

  • 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.
  • If positive, adrenal imaging (CT) or (MRI) should be performed.

Genetic screening

References

  1. 1.0 1.1 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. doi:10.1210/jc.2014-1498. PMID 24893135.
  2. 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. doi:10.1210/jc.2015-3045. PMC 4667160. PMID 26451910.