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pheochromocytoma

Pheochromocytomas are rare tumors that make too much adrenaline.

Pheochromocytoma are found in 2 out of every million people each year and are the cause of high blood pressure in less than 0.2% of people with high blood pressure. However, because pheochromocytoma release adrenaline in uncontrolled bursts, they can cause serious health problems like stroke, heart attacks, and even death.

For this reason, many doctors call it the “pharmacologic time bomb.” Pheochromocytoma can occur at any age and there are no known risk factors except for certain genetic syndromes.

Phaeochromocytoma is a rare tumour that secretes catecholamines. It is derived from chromaffin cells, usually in the adrenal medulla but occasionally extra-adrenal phaeochromocytomas or paragangliomas occur.

The excessive production of catecholamines may cause life-threatening hypertension or cardiac arrhythmias. If the diagnosis is overlooked, the result can be disastrous or fatal but if this rare tumour is diagnosed it is curable.

This page has been duplicated from http://www.patient.co.uk/doctor/phaeochromocytoma

Epidemiology

They occur in between 0.5 and 2 in 1,000 patients with hypertension but patients may be normotensive or have a labile blood pressure.
10-15% of phaeochromocytomas are malignant, 18% extra-adrenal and 20% familial.
In a retrospective study from the Mayo Clinic, the diagnosis was made at autopsy in nearly half the cases. In 10% the diagnosis is an incidental finding.
There is no sex difference in incidence or any particular racial predisposition.
Diagnosis is usually made between the third and the fifth decades.
Approximately 10% occur in children.
In children, 50% are solitary adrenal tumours, 25% are bilateral and 25% are extra-adrenal. They are more likely to be familial than those presenting in adults.

History

Symptoms are intermittent and may vary from once a month to several times a day with duration from seconds to hours. With time they tend to get more frequent and more severe.

There are a number of symptoms that may present but the first four are in bold as they are almost invariably present:

    • Headache
    • Profuse sweating
    • Palpitations
    • Tremor
    • Nausea
    • Weakness
    • Anxiety
    • Sense of doom
    • Epigastric pain
    • Flank pain
    • Constipation
    • Weight loss

Further reading & references

  1. Joynt KE, Moslehi JJ, Baughman KL; Paragangliomas: etiology, presentation, and management. Cardiol Rev. 2009 Jul-Aug;17(4):159-64.
  2. Neumann HP, Eng C; The approach to the patient with paraganglioma. J Clin Endocrinol Metab. 2009 Aug;94(8):2677-83.
  3. Manger WM, Eisenhofer G; Pheochromocytoma: diagnosis and management update. Curr Hypertens Rep. 2004 Dec;6(6):477-84.
  4. Blake MA; Pheochromocytoma, Medscape, Feb 2013
  5. Havekes B, Romijn JA, Eisenhofer G, et al; Update on pediatric pheochromocytoma. Pediatr Nephrol. 2009 May;24(5):943-50. Epub 2008 Jun 20.
  6. Benn DE, Robinson BG; Genetic basis of phaeochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab. 2006 Sep;20(3):435-50.
  7. Manger WM; The Protean Manifestations of Pheochromocytoma. Horm Metab Res. 2009 Feb 25.
  8. Boyle JG, Davidson DF, Perry CG, et al; Comparison of diagnostic accuracy of urinary free metanephrines, vanillyl mandelic Acid, and catecholamines and plasma catecholamines for diagnosis of pheochromocytoma. J Clin Endocrinol Metab. 2007 Dec;92(12):4602-8. Epub 2007 Jul 17.
  9. Westphal SA; Diagnosis of a pheochromocytoma. Am J Med Sci. 2005 Jan;329(1):18-21.
  10. Widimsky J Jr; Recent advances in the diagnosis and treatment of pheochromocytoma. Kidney Blood Press Res. 2006;29(5):321-6. Epub 2006 Nov 21.
  11. Zapanti E, Ilias I; Pheochromocytoma: physiopathologic implications and diagnostic evaluation. Ann N Y Acad Sci. 2006 Nov;1088:346-60.
  12. Strong VE, Kennedy T, Al-Ahmadie H, et al; Prognostic indicators of malignancy in adrenal pheochromocytomas: clinical, histopathologic, and cell cycle/apoptosis gene expression analysis. Surgery. 2008 Jun;143(6):759-68. Epub 2008 Apr 14.
  13. Bravo EL; Pheochromocytoma: current perspectives in the pathogenesis, diagnosis, and management. Arq Bras Endocrinol Metabol. 2004 Oct;48(5):746-50. Epub 2005 Mar 7.
  14. Wilhelm SM, Prinz RA, Barbu AM, et al; Analysis of large versus small pheochromocytomas: operative approaches and patient outcomes. Surgery. 2006 Oct;140(4):553-9; discussion 559-60. Epub 2006 Sep 7.
  15. Cicala MV, Sartorato P, Mantero F; Incidentally discovered masses in hypertensive patients. Best Pract Res Clin Endocrinol Metab. 2006 Sep;20(3):451-66.
  16. Kopetschke R, Slisko M, Kilisli A, et al; Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma. Eur J Endocrinol. 2009 Aug;161(2):355-61. Epub 2009 Jun 4.
  17. Santarpia L, Habra MA, Jimenez C; Malignant Pheochromocytomas and Paragangliomas: Molecular Signaling Pathways and Emerging Therapies. Horm Metab Res. 2009 Apr 2.
  18. Pham TH, Moir C, Thompson GB, et al; Pheochromocytoma and paraganglioma in children: a review of medical and surgical management at a tertiary care center. Pediatrics. 2006 Sep;118(3):1109-17.
  19. Young WF Jr; Paragangliomas: clinical overview. Ann N Y Acad Sci. 2006 Aug;1073:21-9.
  20. Grodski S, Jung C, Kertes P, et al; Phaeochromocytoma in pregnancy. Intern Med J. 2006 Sep;36(9):604-6.
  21. Miller C, Bernet V, Elkas JC, et al; Conservative management of extra-adrenal pheochromocytoma during pregnancy. Obstet Gynecol. 2005 May;105(5 Pt 2):1185-8.