Pheochromocytoma Diagnosis and Management

Clinical Presentation

The American Heart Association notes that approximately 95% of patients with pheochromocytoma present with hypertension, with 50% having sustained hypertension and 50% having paroxysmal hypertension 3, 4
The American College of Cardiology states that increased blood pressure variability is a characteristic of pheochromocytoma, and is an independent risk factor for cardiovascular morbidity and mortality 3
Anxiety or panic is a common symptom in patients with pheochromocytoma 6

The Endocrine Society recommends plasma free metanephrine measurement as the initial diagnostic test, with a sensitivity of 99% and specificity of 89% 3, 5
If plasma test results are inconclusive, a 24-hour urine fractionated metanephrine and catecholamine collection should be performed 5
Plasma methoxytyramine level measurement can help assess the likelihood of malignant disease 5
After biochemical confirmation, abdominal CT or MRI should be performed for tumor localization 5, 6

The European Society of Endocrinology suggests that complete surgical resection (R0 resection) is the primary potentially curative treatment for pheochromocytoma 5, 6

The American Association of Clinical Endocrinologists recommends biochemical testing approximately 14 days post-operatively to check for residual disease 5, 6
Long-term follow-up includes clinical evaluation, biochemical testing, and chest and abdominal CT scans as clinically indicated 5, 6

Tumor size ≥5 cm is a risk factor for malignant pheochromocytoma 5
Extra-adrenal pheochromocytoma (paraganglioma) is a risk factor for malignant disease 5
SDHB germline mutation is a risk factor for malignant pheochromocytoma 5, 6
Elevated plasma methoxytyramine level (>3 times the upper limit of normal) is a risk factor for malignant disease 5

Despite advances in diagnostic techniques, the average time from initial symptoms to final diagnosis is approximately 3 years 3
Many cases of pheochromocytoma are completely missed, with tumor causing 55% of deaths, and 75% of cases not suspected during life 3
Approximately 35% of pheochromocytomas are hereditary, and genetic testing should be considered, especially in patients with a family history, young age at diagnosis, bilateral or multiple tumors, or extra-adrenal location 5, 6