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Clinical presentation and diagnosis of pheochromocytoma

Author
William F Young, Jr, MD, MSc
Section Editor
André Lacroix, MD
Deputy Editor
Kathryn A Martin, MD

INTRODUCTION

Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are referred to as “pheochromocytomas” and “catecholamine-secreting paragangliomas” (“extra-adrenal pheochromocytomas”), respectively. Because the tumors have similar clinical presentations and are treated with similar approaches, many clinicians use the term “pheochromocytoma” to refer to both adrenal pheochromocytomas and catecholamine-secreting paragangliomas. However, the distinction between pheochromocytoma and paraganglioma is an important one because of implications for associated neoplasms, risk for malignancy, and genetic testing.

The clinical presentation and approach to diagnosis of pheochromocytoma are reviewed here. The genetics and treatment of pheochromocytoma and the clinical manifestations, diagnosis, and treatment of paragangliomas are discussed separately. (See "Pheochromocytoma in genetic disorders" and "Treatment of pheochromocytoma in adults" and "Paragangliomas: Epidemiology, clinical presentation, diagnosis, and histology".)

EPIDEMIOLOGY

Catecholamine-secreting tumors are rare neoplasms, probably occurring in less than 0.2 percent of patients with hypertension [1,2]. It is estimated that the annual incidence of pheochromocytoma is approximately 0.8 per 100,000 person-years [3]. However, this is likely to be an underestimate, as 50 percent of pheochromocytomas were diagnosed at autopsy in one series [4]. Although pheochromocytomas may occur at any age, they are most common in the fourth to fifth decade and are equally common in men and women [5]. Tumor characteristics are described below. (See 'Tumor characteristics' below.)

Most catecholamine-secreting tumors are sporadic. However, approximately 30 percent of patients have the disease as part of a familial disorder; in these patients, the catecholamine-secreting tumors are more likely to be bilateral adrenal pheochromocytomas or paragangliomas.

Hereditary catecholamine-secreting tumors typically present at a younger age than sporadic neoplasms. Sporadic pheochromocytoma is usually diagnosed on the basis of symptoms or an incidental discovery on computed imaging, whereas syndromic pheochromocytoma is frequently diagnosed earlier in the course of disease because of biochemical surveillance or genetic testing. (See "Pheochromocytoma in genetic disorders".)

                                

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Literature review current through: Jul 2016. | This topic last updated: Feb 24, 2016.
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