Pheochromocytoma and paraganglioma: Diagnosis, genetics, management, and treatment

PHEO/PGL are rare tumors, affecting about 1 in 2500-6500 individuals, with 500-1600 cases diagnosed annually in the United States. 1 However, their true incidence may be higher owing to the lack of diagnosis until after death; a review of autopsy cases in Australia found that 0.05% had undiagnosed PHEO/PGL. 2 They are a rare cause of secondary hypertension, with an incidence in hypertensive patients of only about 0.3%-0.5%. 3,4 Although adrenal PHEOs, the more common of the 2, account for about 80%-85% of these tumors, 5 only approximately 5%-7% of adrenal incidentalomas are PHEOs. 6,7 The mean age at diagnosis is approximately 43 years, but 10%-20% of PHEO/PGL are identified in children, commonly associated with underlying genetic conditions. 8-10