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Pheochromocytoma and paraganglioma

Background

Overview

Definition
Pheochromocytomas and paragangliomas are rare NETs that originate from chromaffin cells in the adrenal medulla or extra-adrenal paraganglia, respectively.
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Pathophysiology
The pathophysiology of these tumors involves the uncontrolled growth of chromaffin cells, which are responsible for the production of catecholamines. This overproduction can lead to a variety of symptoms and complications, including hypertensive crisis and CVD.
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Epidemiology
The overall incidence of pheochromocytoma or paraganglioma in Canada is estimated to be 0.66 cases per 100,000 people per year.
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Risk factors
Risk factors for pheochromocytoma and paraganglioma include certain genetic syndromes, such as MEN2, neurofibromatosis type 1, and von Hippel-Lindau syndrome. Additionally, mutations in the succinate dehydrogenase gene family have been found to predispose individuals to pheochromocytoma.
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Disease course
Clinically, these tumors often present with symptoms related to catecholamine overproduction. These can include hypertension, palpitations, sweating, panic attacks, and pallor. Symptoms can be paroxysmal or persistent and may be triggered by certain medications, changes in abdominal pressure, or even micturition.
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Prognosis and risk of recurrence
The prognosis of these tumors is generally favorable if diagnosed early and managed appropriately. However, if left untreated or if diagnosis is delayed, these tumors can metastasize and lead to severe complications.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of pheochromocytoma and paraganglioma are prepared by our editorial team based on guidelines from the Canadian Urological Association (CUA 2023,2019), the American Association of Endocrine Surgeons (AAES 2022), the European Reference Network on Rare Adult Solid Cancers (EURACAN/ESMO 2020), the Canadian Hypertension Education Program (CHEP 2018,2016), the European Society of Endocrinology ...
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