Pheochromocytoma: presentation, diagnosis and treatment

Pheochromocytomas are rare, mostly benign catecholamine-producing tumors of chromaffin cells of the adrenal medulla or of a paraganglion. Typical clinical manifestations are sustained or paroxysmal hypertension, severe headaches, palpitations and sweating resulting from hormone excess. However, their presentation is highly variable and can mimic many other diseases. If remaining unrecognized or untreated, they can be a life-threatening condition. Therefore, the most important message of this review is to think of them. The diagnosis of pheochromocytomas depends mainly upon the demonstration of catecholamine excess by 24-h urinary catecholamines and metanephrines or plasma metanephrines. They are localized by a computed tomography scan and magnetic resonance imaging of the adrenal glands and abdomen; complementary 123I-metaiodobenzylguanidine scintigraphy and 18F-dihydroxyphenylalanine-positron emission tomography are available. Because approximately one out of four pheochromocytomas turn out to be hereditary entities, screening for genetic alterations is important. Laparoscopic and adrenal sparing surgical intervention following preoperative alpha-blockade is the treatment of choice and usually curative. In malignant pheochromocytomas, radiotherapy and chemotherapy are palliative treatment options. This review provides an update on identification and management of pheochromocytomas, emphasizing current developments in diagnosis, including genetic testing, pathophysiology and treatment of pheochromocytomas.