Pheochromocytoma Diagnosis and Management

Definition and Epidemiology

Pheochromocytoma is a rare catecholamine-producing neuroendocrine tumor with a prevalence of 0.01-0.2% in the general hypertensive population, but up to 4% in resistant hypertension, according to the American College of Cardiology 1, 2
Approximately 35% of cases are hereditary, associated with genetic syndromes including multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL), neurofibromatosis type 1 (NF1), and succinate dehydrogenase (SDH) mutations, as stated by the Endocrine Society 2, 3

Approximately 95% of patients present with hypertension, with 50% having sustained hypertension and 50% having paroxysmal hypertension, as reported by the American Heart Association 2, 4
The classic triad of headache, palpitations, and sweating occurring episodically has 90% diagnostic specificity, according to the European Society of Cardiology 1, 4

Initial screening should measure plasma free metanephrines, which have the highest sensitivity (96-100%) and specificity (89-98%), as recommended by the Endocrine Society 1, 2
Abdominal CT or MRI should be performed for tumor localization after biochemical confirmation, with MRI preferred over CT due to the risk of hypertensive crisis with IV contrast, as stated by the American College of Radiology 1, 2

All patients with pheochromocytoma must receive preoperative alpha-adrenergic blockade for at least 10-14 days before surgery, as recommended by the European Society of Medical Oncology 6, 5
Complete surgical resection (R0 resection) is the only potentially curative treatment and should be performed only in specialized centers, as stated by the Society of Surgical Oncology 6, 2

Biochemical testing should be performed approximately 8-14 days post-operatively to check for residual disease, as recommended by the Endocrine Society 5, 2
Long-term follow-up includes clinical evaluation, biochemical testing, and chest/abdominal CT scans as clinically indicated, with patients with SDHB mutations requiring lifelong monitoring due to higher malignancy risk, as stated by the American College of Medical Genetics 1, 2