Which studies are used to rule out a familial syndrome in confirmed pheochromocytoma?

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

Additional studies to rule out a familial syndrome in patients with confirmed pheochromocytoma include the following:

  • Serum intact parathyroid hormone level and a simultaneous serum calcium level to rule out primary hyperparathyroidism (which occurs in MEN 2A)
  • Screening for mutations in the ret proto-oncogene (which give rise to MEN 2A and 2B) [3]
  • Genetic testing for mutations causing the MEN 2A and 2B syndromes
  • Consultation with an ophthalmologist to rule out retinal angiomas (VHL disease)

See Workup for more detail.


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