Test your knowledge on...
Ms. B. is a 54-year-old accountant who comes to see you for a physical exam required prior to an upcoming elective cholecystectomy. She's quite nervous about the surgery and questions its necessity. Her past history is positive only for removal of multiple benign skin tumours, and her only medication is lorazepam, prescribed for "her nerves" and to sleep at night. She has been taking this medication for 5 years and recalls having been a relaxed, contented person prior to this. The patient doesn't smoke or drink and exercises regularly, walking briskly on the treadmill for 30 minutes per day. Her family history is positive for "some gene disorder" in her mother, who had multiple nodules over her face and trunk.
Review of systems is unremarkable, except that Ms. B. reports increasing problems with anxiety attacks over the last 6 months. You question her further about these, but there's no obvious precipitating cause. During attacks, she experiences acute fear accompanied by palpitations, diaphoresis and nausea. She now has a headache with each episode, but no chest pain or dizziness and no flushing. Having read that new headaches are a concern in middle age, the patient wonders if she could have a brain tumour. There's no proximal muscle pain or weakness and no jaw claudication, and she denies any neurologic symptoms.
Physical exam reveals a thin, healthy appearing woman with blood pressure of 120/74 mm Hg in both arms seated. She has multiple café au lait spots, but no obvious cutaneous nodules. Her cardiovascular examination and a screening neurologic exam are both normal.
You check her complete blood count and find her hemoglobin at 140 g/L; erythrocyte sedimentation rate is also normal at 2 mm/h. CT of her head is entirely unremarkable. Because of the palpitations and the upcoming surgery, you obtain a 24-hour Holter monitor. She's wearing the monitor during an episode and it shows only sinus tachycardia. Her exercise stress test is normal, as is her 12-lead electrocardiogram. You are set to reassure her that she's having benign anxiety attacks and clear her for surgery, but still wonder if you could have missed any serious diagnoses. So you order one more test, which comes back positive. What's the test and what is the diagnosis?
Is it safe for Ms. B. to undergo a gall-bladder operation?
You ordered a 24-hour urine collection for catecholamines, fractionated metanephrines and creatinine, collected during an episode, and the results are as follows:
- epinephrine 724 nmol/day (normal < 60)
- norepinephrine 1,620 nmol/day (normal < 600)
- metanephrine 12,043 nmol/day (normal < 1,700)
- normetanephrine 800 nmol/day (normal < 500)
Ms. B has a pheochromocytoma, confirmed by the results of her 24-hour urine collection. Missing the diagnosis would have put her at high risk of a hypertensive crisis during surgery. The condition is often overlooked because it's rare, and there are much more common reasons for "anxiety attacks." However, there were several hints from her history suggesting pheochromocytoma: the patient had the classic triad of headache, palpitations and perspiration during spells, and she also showed evidence for a genetic condition associated with pheochromocytoma, neurofibromatosis type 1 (including café au lait spots, prior skin masses and family history of a genetic disorder). Half of patients with pheochromocytoma only have hypertension during an attack, so her normal blood pressure in the office doesn't rule out the diagnosis.
The possibility of pheochromocytoma should also be considered in patients with:
- severe or difficult to control hypertension
- diastolic hypertension which presents before age 20 or after age 50
- an adrenal mass discovered incidentally during abdominal imaging
24-hour urine catecholamines and metanephrines can be normal between spells; to rule out the diagnosis, they must be normal during an episode.
We'll send you $100 if we print your diagnostic challenge. Send case description (app. 450 words) with final diagnosis and outcome to: parkex@parkpub.com.
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