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Pheochromocytomas and secreting paragangliomas Plouin PF; Gimenez-Roqueplo APOrphanet J Rare Dis 2006[Dec]; 1 (ä): 49Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension and 4% in patients with a fortuitously discovered adrenal mass. An increase in the production of catecholamines causes symptoms (mainly headaches, palpitations and excess sweating) and signs (mainly hypertension, weight loss and diabetes) reflecting the effects of epinephrine and norepinephrine on alpha- and beta-adrenergic receptors. Catecholamine-producing tumors mimic paroxysmal conditions with hypertension and/or cardiac rhythm disorders, including panic attacks, in which sympathetic activation linked to anxiety reproduces the same signs and symptoms. These tumors may be sporadic or part of any of several genetic diseases: familial pheochromocytoma-paraganglioma syndromes, multiple endocrine neoplasia type 2, neurofibromatosis 1 and von Hippel-Lindau disease. Familial cases are diagnosed earlier and are more frequently bilateral and recurring than sporadic cases. The most specific and sensitive diagnostic test for the tumor is the determination of plasma or urinary metanephrines. The tumor can be located by computed tomography, magnetic resonance imaging and metaiodobenzylguanidine scintigraphy. Treatment requires resection of the tumor, generally by laparoscopic surgery. About 10% of tumors are malignant either at first operation or during follow-up, malignancy being diagnosed by the presence of lymph node, visceral or bone metastases. Recurrences and malignancy are more frequent in cases with large or extraadrenal tumors. Patients, especially those with familial or extraadrenal tumors, should be followed-up indefinitely.|Adrenal Gland Diseases/diagnosis[MESH]|Adrenal Gland Neoplasms/complications/*diagnosis/genetics/metabolism/*therapy[MESH]|Catecholamines/biosynthesis/metabolism[MESH]|Diagnosis, Differential[MESH]|Genetic Testing/methods[MESH]|Humans[MESH]|Hypertension/etiology[MESH]|Paraganglioma, Extra-Adrenal/*diagnosis/genetics/*metabolism/therapy[MESH]|Pheochromocytoma/complications/*diagnosis/genetics/*therapy[MESH]|Prognosis[MESH]|Proto-Oncogene Proteins c-ret/genetics[MESH] |
