How is multiple endocrine neoplasia type 2B (MEN 2B) diagnosed and what is the risk for pheochromocytomas?

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

Clinical diagnosis of MEN 2B is based on the presence of mucosal neuromas of the oral mucosa, enlarged lips with characteristic facial appearance, and marfanoid habitus. Medullary thyroid carcinoma is virtually assured with MEN 2B, and the risk of pheochromocytoma is 50%. Parathyroid disease is uncommon with MEN 2B. [12]  Persons diagnosed with MEN 2B should have a prophylactic thyroidectomy in infancy because of the early and aggressive nature of associated medullary thyroid carcinoma.


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