Clinical manifestations-pheochromocytoma and paraganglioma

(NEJM 2019;381:552)

• Neuroendocrine neoplasm leads to inappropriate and paroxysmal release of adrenergic agents including epinephrine, norepinephrine, and rarely dopamine
• Classic triad: episodic headaches, palpitations and profuse sweating; only 50% have paroxysmal hypertension and most Pts do not have three classic sx
• Paroxysms can be triggered by meds (eg, β-blockers), abdominal manipulation
• Up to 40% of pheos/paragangliomas thought to have underlying genetic etiology; genetic testing frequently recommended
• Associated with MEN2A/2B, von Hippel Lindau, NF1, familial paraganglioma (mutations in succinate dehydrogenase gene B, C and D), MAX or TMEM127 mutations