[Pheochromocytoma in Neurofibromatosis Type 1]

Neurofibromatosis type 1 is a hereditary disease with a wide variability of clinical manifestations, from the almost complete absence of typical symptoms to a multisystem lesion of the body. One of the possible clinical manifestations of this pathology is a pheochromocytoma - a tumor of the adrenal gland with the possible development of considerable cardiovascular complications. The article describes four cases of patients with pheochromocytoma as part of familial neurofibromatosis type 1, differing in clinical course from asymptomatic form to vivid paroxysmal manifestations. At the same time, the presence and degree of arterial hypertension did not correlate with the level of metanephrines and the size of the pheochromocytoma. 3 out of 4 patients have a hereditary history of neurofibromatosis type 1. In 1 out of 4 cases, simultaneous bilateral damage to the adrenal glands was noted, while the radiation characteristics of pheochromocytomas, both with computed tomography and CT/PET with 18-FDG, differed from the "classic" ones. An objective examination with the identification of "erased" signs of neurofibromatosis type 1 made it possible to establish the diagnosis of bilateral pheochromocytoma even with questionable laboratory and imaging data. Knowledge of clinical manifestations, timely diagnosis of neurofibromatosis type 1, comprehensive treatment and subsequent regular monitoring of patients, as well as examination of blood relatives can significantly improve prognosis and survival.