CC: abdominal pain
ID: 57 year-old male with no past medical history presents with abdominal pain, right flank pain, dysuria and generalized symptoms of chills and fevers for 4 days. Interestingly, patient had exam findings consistent with neurofibromatosis type 1; skin exam was pertinent for neurofibromas, axillary freckling and >6 café au lait spots. He was admitted for work up and management of sepsis secondary to pyelonephritis as patient was also febrile and tachycardic with a neurophilic predominant leukocytosis. He began having intermittent episodes of hypertension overnight lasting 5 minutes with blood pressures as high as 220/150, raising suspicion for pheochromocytoma. Work up for pheochromocytoma returned back positive with serum total metanephrines 16,309 pg/mL, free metanephrine 9,944 pg/mL, free normetanephrine 6,442 pg/mL and a CT Abdomen that demonstrated a right adrenal mass measuring 7.8 x 7.5cm. After appropriate blood pressure control with alpha blockade followed by beta blockade, patient underwent surgical removal of the tumor with pathology confirming pheochromocytoma.
Morning Report Pearls:
- The classic triad of headache, diaphoresis, and palpitations is not always seen. Pheochromocytoma is known as the great masquerader and can have a multitude of presentations.
- Hypertension can be episodic but don’t forget patients can have constant hypertension or even hypotension when the tumor secretes predominately epinephrine.
- Remember which conditions have a higher incidence of pheochromocytomas like MEN 2A and 2B, Von Hippel Lindau, and Neurofibromatosis type 1 (like in this patient).
- Diagnosis is made by documenting elevated metanephrines and normetanephries that are >2x the upper limit of normal. Order plasma levels when suspicion for the disease is high and urine levels when there is low suspicion, given the higher sensitivity and specificity of these tests respectively. If positive, this should always be followed by imaging. Of note, false positives can be related to medication use, critical illness, and stress.
- Treatment with alpha blockade is key to prevent worsening of hypertension. Phenoxybenzamine is the classic medication we are taught about but also consider other alpha blockers like prazosin.