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 therapy for hypertension (phenoxybenzamine, phentolamine, alpha-blockers) and surgical excision of tumour (open or laparoscopic adrenalectomy). For unresectable tumours, alternative approaches include chemotherapy or radiopharmaceuticals.

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.[1]Neumann HPH, Young WF Jr, Eng C. Pheochromocytoma and paraganglioma. N Engl J Med. 2019 Aug 8;381(6):552-65. http://www.ncbi.nlm.nih.gov/pubmed/31390501?tool=bestpractice.com 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.[2]Lenders JW, Duh QY, Eisenhofer G, et al; Endocrine Society. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42. https://academic.oup.com/jcem/article/99/6/1915/2537399 http://www.ncbi.nlm.nih.gov/pubmed/24893135?tool=bestpractice.com These tumours mostly develop sporadically. Up to 40% of cases are a manifestation of a hereditary syndrome, such as multiple endocrine neoplasia type 2 or Von Hippel-Lindau syndrome.[1]Neumann HPH, Young WF Jr, Eng C. Pheochromocytoma and paraganglioma. N Engl J Med. 2019 Aug 8;381(6):552-65. http://www.ncbi.nlm.nih.gov/pubmed/31390501?tool=bestpractice.com [2]Lenders JW, Duh QY, Eisenhofer G, et al; Endocrine Society. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42. https://academic.oup.com/jcem/article/99/6/1915/2537399 http://www.ncbi.nlm.nih.gov/pubmed/24893135?tool=bestpractice.com [3]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.