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Updated: Dec 26 2021

Pheochromocytoma

  • Snapshot
    • A 45-year-old woman presents to the emergency room from her primary care physician’s office for high blood pressure unresponsive to therapy. She has a history of neurofibromatosis type 1, though without any neurological deficits. She has multiple café-au-lait spots on her body. She is found to be hypertensive to 154/121 mmHg. Her 24-hour urine metanephrines and VMA come back elevated. Her abdominal CT comes back with an adrenal mass.
  • Introduction
    • Nonmalignant tumor of adrenal medulla
      • most common adrenal tumor in adults
        • vs neuroblastoma, which is most common in children
      • secretes catecholamines causing episodic hypertension
    • Rule of 10’s
      • 10% malignant
      • 10% bilateral
      • 10% extra-adrenal
        • bladder and organ of Zuckerkandl (bifurcation of aorta)
      • 10% calcify
      • 10% kids
  • Epidemiology
    • 40-50 year old
  • ETIOLOGY
    • Pathogenesis
      • chromaffin cells from neural crest origin
    • Associated conditions
      • Von Hippel-Lindau disease
      • MEN 2A
      • MEN 2B
      • Neurofibromatosis type 1
  • Presentation
    • Symptoms are episodic
      • 5 P’s
        • Pressure (↑ BP)Pain (headache)
        • Perspiration
        • Palpitations (tachycardia)
        • Pallor
      • mediated by tumor secretion of epinephrine, norepinephrine, and dopamine
      • therapy-resistant hypertension
    • Physical exam
      • ↑ BP (diastolic)
      • skin hyperpigmentation (café-au-lait spots) may suggest NF1
  • Imaging
    • Adrenal mass seen on MRI or CT
    • MIBG scanning
      • nuclear isotope scan to detect extra-adrenal involvement
  • STUDIES
    • Best initial test
      • ↑ free metanephrine level in plasma
    • Confirmation with 24-hour urine collection
      • ↑ vanillyl mandelic acid (breakdown of norepinephrine and epinephrine)
      • ↑ metanephrines (more sensitive than VMA)
    • Histology
      • chromaffin cells with enlarged dysmorphic nuclei
  • Differential Diagnosis
    • Functional adrenal tumors
      • various different hormonal syndromes can result, such as
        • Cushing syndrome
          • secondary to unregulated cortisol secretion
        • Conn syndrome
          • secondary to unregulated aldosterone secretion
        • male feminization
          • secondary to unregulated estrogen secretion
        • female virilization
          • secondary to unregulated androgen secretion
            • e.g., androstenedione, DHEA, and testosterone levels
    • Hyperthyroidism
    • Carcinoid tumors
    • Panic disorder
    • Therapy resistant hypertension from obstructive sleep apnea
  • Treatment
    • In this sequence of events
      • α-antagonist phenoxybenzamine to prevent unopposed α-action if β receptors are blocked
      • β-blocker
      • tumor resection
  • Complications
    • Metastases
      • bones, lungs, and liver
    • Transformation to malignant tumor (10%)
    • Hypertensive crisis
  • Prognosis
    • Very good with resection
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