A 38-year-old man presents with episodic headache, palpitations, and diaphoresis. BP during an episode is 220/130 mmHg. 24-hour urinary metanephrines are markedly elevated. Which genetic syndrome is most commonly associated with bilateral phaeochromocytoma?

• A Von Hippel-Lindau disease
• B Neurofibromatosis type 1
• C Carney triad
• D Multiple endocrine neoplasia type 2 (MEN2) ✓

Explanation

MEN2 (RET proto-oncogene mutation) is the most common genetic syndrome associated with bilateral phaeochromocytoma; nearly 50% of MEN2-associated phaeochromocytomas are bilateral. VHL disease also causes bilateral phaeochromocytoma but is the second most common association. NF1 phaeochromocytomas are usually unilateral. Carney triad (GIST, pulmonary chondroma, extra-adrenal paraganglioma) is distinct from bilateral adrenal phaeochromocytoma.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.