Which profiles of plasma catecholamine metabolites guide genetic testing for pheochromocytoma?

Updated: Aug 10, 2018
  • Author: Michael A Blake, MBBCh, MRCPI, FRCR; Chief Editor: George T Griffing, MD  more...
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Answer

Profiles of plasma catecholamine metabolites in patients with hereditary pheochromocytoma that can serve as a guide to genotype testing include the following [10, 35] :

  • Increased metanephrine (epinephrine metabolite): All patients with MEN 2 and neurofibromatosis type 1 (NF1)
  • Increased normetanephrine only (norepinephrine metabolite): Most patients with VHL
  • Increased methoxytyramine (dopamine metabolite): 70% of patients with SDHB and SDHD mutations; increased normetanephrine may also be present

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