Diagnostic and therapeutic procedures in pheochromacytoma: current trends


Authors: J. Widimský Jr 1;  T. Zelinka 1;  O. Petrák 1;  B. Štrauch 1;  L. Šafařík 2;  M. Kasalický 3;  A. Vranková 1;  R. Holaj 1
Authors‘ workplace: Centrum pro hypertenzi III. interní kliniky 1. lékařské fakulty UK a VFN Praha, přednosta prof. MUDr. Štěpán Svačina, DrSc., MBA 1;  Urologická klinika 1. lékařské fakulty UK a VFN Praha, přednosta prof. MUDr. Jan Dvořáček, DrSc. 2;  I. chirurgická klinika 1. lékařské fakulty UK a VFN Praha, přednosta doc. MUDr. Jan Šváb, CSc. 3
Published in: Vnitř Lék 2007; 53(4): 428-433
Category: Reviews

Overview

Pheochromacytoma is a relatively rare cause of arterial hypertension. Untreated pheochromacytoma may however lead to a fatal hypertensive crisis during anaesthesia or another form of stress. It is therefore important to correctly diagnose this disease. 24-hour monitoring of blood pressure (BP) can already contribute to the diagnosis of pheochromacytoma based on the frequent occurrence of BP variability and the absence of a night-time fall in BP. 5 gene mutations have so far been identified that may be responsible for the familial form of pheochromacytoma: mutation of the von Hippel-Lindau (VHL) gene, leading to the onset of VHL syndrome, mutation of the RET-proto-oncogene in multiple endocrine adenomatosis type 2, mutation of the type 1 gene for neurofibromatosis, which is associated with von Recklinghausen’s disease and finally mutation of the genes encoding the B and D subunits of succinate dhydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and pheochromacytoma. Genetic analysis should therefore be carried out for all confirmed cases of pheochromacytoma, especially for young people under 50 years of age. Biochemical diagnostics relies mainly on measurements of free metanephrines in plasma or urine, which usually has greater diagnostic weight than plasma, or catecholamines in urine. The diagnosis of extraadrenal or multiple forms can use not only CT/MR but also imaging using the radiopharmaceutical 123I-Metaiodobenzylguanidine (MIBG) or 18F-fluorodopamine PET (only available in the USA). Pharmacological treatment using alpha or beta receptor blockers with subsequent laparoscopic excision of the tumor is usually successful in benign forms of pheochromocytoma. Unfortunately, there are still no convincingly effective therapeutic procedures available for malign forms.

Key words:
pheochromacytoma – blood pressure – genetic analysis – diagnostics – treatment


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Labels
Diabetology Endocrinology Internal medicine

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