Recent Advances in the Diagnosis and Treatment of Pheochromocytoma

Pheochromocytoma (PHEO) is considered to be a rare cause of hypertension. However, if left untreated, PHEOs may lead to fatal hypertensive crises during anesthesia and other stresses. The diagnosis of PHEO is therefore extremely important. A 24-hour blood pressure (BP) pattern per se might be of some diagnostic value due to frequently observed higher BP variability as well as an attenuated night-time BP decrease. So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen’s disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs. Genetic analysis should be offered to those patients with confirmed PHEO who are 50 years old or younger. Plasma-free metanephrines or urinary fractionated metanephrines seem to have higher diagnostic values compared to plasma or urinary catecholamines for the biochemical diagnosis of PHEO. Imaging with 123 I-metaiodobenzylguaniPublished online: November 21, 2006 J. Widimský, Jr. Center for Hypertension, Charles University Third Internal Department Unemocnice 1, Prague 2 (Czech Republic) E-Mail [email protected] © 2006 S. Karger AG, Basel 1420–4096/06/0295–0321$23.50/0 Accessible online at: www.karger.com/kbr This invited review was supported by the unrestricted educational grant provided by Amgen. D ow nl oa de d by : 54 .7 0. 40 .1 1 10 /2 9/ 20 17 1 1: 40 :3 8 A M