Phaeochromocytoma

Phaeochromocytoma is a rare neuroendocrine tumour of the adrenal glands. It can present 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 metanephrines and normetanephrines.

Treatment includes medical therapy for hypertension 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 85% arise in the adrenal gland; the remainder being tumours derived from extra-adrenal chromaffin cells of the sympathetic paravertebral ganglia known as paragangliomas.[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 phaeochromocytoma and paraganglioma (PPGL) 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