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Clinical Briefing: Clinical Diagnosis and Surgical Treatment of Pheochromocytoma

July/August 2008

Pheochromocytomas are rare tumors (<2 per 100,000) traditionally defined by a "classic triad" of catecholamine-induced presenting symptoms that include headache, palpitations and sweating. A team of clinicians at Penn recently demonstrated, however, that physicians guided by these diagnostic criteria might be overlooking many patients with pheochromocytomas.

Penn is a major regional source of referrals for patients with pheochromocytoma, who are diagnosed and treated by an interdisciplinary team of clinicians within the renal-electrolyte and hypertension division and the divisions of medical genetics and endocrine and oncologic surgery.

As a result of extensive experience, these clinicians accumulated sufficient evidence over time to suspect that patients with pheochromocytomas had a diversity of presenting symptoms, and that, in fact, the classic triad is rarely seen. Many patients with pheochromocytoma present with hypertension, which can be labile. Others have few or none of the classic symptoms, or possess them as secondary adjuncts to other, more significant symptoms.

A retrospective chart review of pheochromocytoma patients was performed at Penn to evaluate presenting symptoms in pheochromocytoma. Of more than 130 patients assessed, 38 percent had palpitations, 39 percent had sweating, and 36 percent had headaches at initial presentation. Hypertension was found in 66 percent of patients at presentation. Genetic testing was performed in 39 percent of all patients; more than half of these patients (53 percent) were found to have genetic mutations. These findings emphasize the importance of maintaining a high index of suspicion in a variety of patients with renal disease.

Case Study
Mr. R presented at age 12 with headaches and diarrhea; he was diagnosed with a right adrenal pheochromocytoma and underwent right adrenalectomy. At age 37, Mr. R was seen at the Penn Center for Complex Hypertension with recurrence of diarrhea and headaches. His blood pressure was 132/80 mm Hg in the absence of antihypertensive medications.

He was found to have a left adrenal mass consistent with pheochromocytoma and was scheduled for a second adrenalectomy. For preoperative alpha blockade, he was treated with dibenzylene and alpha methyl-tyrosine. A left-sided adrenalectomy was performed.

Now unable to produce endogenous steroids, Mr. R began a regimen of hydrocortisone and fludrocortisone. Because certain genetic mutations are associated with bilateral adrenal pheochromocytoma, Mr. R was referred for genetic testing. Genotyping studies were positive for the Von Hippel Lindau V84L mutation, an autosomal dominant trait with a 50 percent risk of inheritance.

Mr. R's 12-year-old son, JW, was also found to be carrying the vHL mutation. JW had no symptoms; supine and sitting BP were 120/78 mm Hg and 118/82 mm Hg. Standing blood pressure was 96/74 mm Hg, with a heart rate of 120 beats/minute. Urine studies show elevated normetanephrine levels. MRI of the abdomen showed a left adrenal mass and laparoscopic adrenocortical sparing surgery was performed. While his BP remained normal with home BP monitoring, JW's plasma and urine metanephrines never "normalized."

A repeat MRI performed a year later revealed a new tumor in the right adrenal gland and a second adrenal cortex sparing surgery for his second pheochromocytoma was performed. Both Mr. R and JW remain disease-free several years later with yearly surveillance with blood tests and imaging for recurrent pheochromocytoma.

Our Team of Faculty
The faculty of the Penn Renal-Electrolyte and Hypertension Division offers diagnostic evaluation and clinical management for patients with acute or chronic kidney diseases, renal failure, acute glomerulonephritis, complex hypertension, diabetic nephropathy, nephrotic syndrome, amyloidosis, electrolyte and acid-based disturbances, genetic kidney diseases, hematuria, proteinuria, and kidney stones. Patient care is provided in a setting with access to a full array of multidisciplinary state-of-the-art clinical and diagnostic services.

Nephrology
Hospital of the University of Pennsylvania

Jeffrey S. Berns, MD
Professor of Medicine and Pediatrics

Roy D. Bloom, MD
Associate Professor of Medicine

Debbie Cohen, MD*
Assistant Professor of Medicine

Stephanie DeLoach, MD*
Instructor

Alden M. Doyle, MD, MPH, MS
Assistant Professor of Medicine

Joel Glickman, MD
Clinical Associate Professor of Medicine

Simin Goral, MD
Associate Professor of Medicine

Robert Grossman, MD
Professor of Medicine

Sidney Kobrin, MD
Associate Professor of Medicine

Raymond Townsend, MD*
Professor of Medicine

Karen Warburton, MD*
Assistant Professor of Clinical Medicine

Alan Wasserstein, MD
Associate Professor of Medicine

Nephrology
Penn Presbyterian Medical Center

Raphael Cohen, MD
Clinical Associate Professor of Medicine

Brenda Hoffman, MD
Associate Professor of Clinical Medicine

Michael Rudnick, MD
Associate Professor of Medicine

Nephrology
Penn Medicine at Radnor

Joel Glickman, MD
Clinical Associate Professor of Medicine

Sidney Kobrin, MD
Associate Professor of Medicine

Renal Pathology

John Tomaszewski, MD
Professor of Pathology and Laboratory Medicine

Endocrine and Oncologic Surgery

Douglas L. Fraker, MD*
Chief, Division of Endocrine and Oncologic Surgery
Associate Professor of Surgery

Medical Genetics

Katherine L. Nathanson, MD*
Assistant Professor of Medicine

Nuclear Medicine

Chaitanya R. Divgi, MD*
Professor of Radiology

Hematology/Oncology

David J. Vaughn, MD*
Associate Professor of Medicine

*Specialist in Penn Program for Complex Hypertension

Access
Patient appointments are available at:

Renal-Electrolyte and Hypertension Division
Hospital of the University of Pennsylvania
3400 Spruce Street
210 White Building
Philadelphia, PA 19104

Penn Presbyterian Medical Center
240 Medical Office Building
38th and Market Streets
Philadelphia, PA 19104

Penn Medicine at Radnor
250 King of Prussia Road
Radnor, PA 19087

To refer a patient and/or consult with a doctor call 800-789-PENN (7366) or you can also refer a patient online.

	Referring Physicians: To speak with a Penn physician or refer a patient, contact PennHealth through the secure online referral form or by calling 1-800-789-PENN (7366).