Phaeochromocytoma

Presents with palpitations, diaphoresis, pallor, and paroxysmal hypertension.

Risk factors include multiple endocrine neoplasia type 2, Von Hippel-Lindau syndrome, and neurofibromatosis type 1.

Diagnosed by increased levels of urine and serum catecholamines, metanephrines, and normetanephrines.

Treatment includes medical options (phenoxybenzamine, phentolamine, alpha-blockers) and surgical options (open or laparoscopic adrenalectomy).

Complications include hypertensive crisis, myocardial infarction, and hypotension.

A tumour arising from catecholamine-producing chromaffin cells of the adrenal medulla that classically presents with headaches, diaphoresis, and palpitations in the setting of paroxysmal hypertension. Symptoms are usually episodic and tend to progress as the tumour grows. The majority of these tumours are benign. About 80% to 90% arise in the adrenal gland; the remainder being extra-adrenal in origin and most commonly found in the head and neck. These tumours mostly develop sporadically. Up to 35% of cases are a manifestation of a hereditary syndrome, such as multiple endocrine neoplasia type 2 or Von Hippel-Lindau syndrome. [1] Lenders JW, Eisenhofer G, Manelli M, et al. Phaeochromocytoma. Lancet. 2005 Aug 20-26;366(9486):665-75. http://www.ncbi.nlm.nih.gov/pubmed/16112304?tool=bestpractice.com [2] Mazzaglia PJ. Hereditary pheochromocytoma and paraganglioma. J Surg Oncol. 2012 Oct 1;106(5):580-5. http://www.ncbi.nlm.nih.gov/pubmed/22648936?tool=bestpractice.com [3] Canu L, Rapizzi E, Zampetti B, et al. Pitfalls in genetic analysis of pheochromocytomas/paragangliomas - case report. J Clin Endocrinol Metab. 2014 Jul;99(7):2321-6. http://www.ncbi.nlm.nih.gov/pubmed/24758185?tool=bestpractice.com [4] Martucci VL, Pacak K. Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment. Curr Probl Cancer. 2014 Jan-Feb;38(1):7-41. https://www.cpcancer.com/article/S0147-0272(14)00002-6/fulltext http://www.ncbi.nlm.nih.gov/pubmed/24636754?tool=bestpractice.com The tumour was named phaeochromocytoma, after its characteristic 'dusky-coloured tumour' appearance, by Pick in 1912.