Pheochromocytoma can present with palpitations, diaphoresis, pallor, and paroxysmal hypertension.
Risk factors include multiple endocrine neoplasia type 2, Von Hippel-Lindau syndrome, and neurofibromatosis type 1.
Diagnosed by increased levels of urine and serum catecholamines, metanephrines, and normetanephrines.
Treatment includes medical therapy for hypertension (phenoxybenzamine, phentolamine, alpha-blockers) and surgical excision of tumor (open or laparoscopic adrenalectomy). For unresectable tumors, alternative approaches include chemotherapy or radiopharmaceuticals.
Complications include hypertensive crisis, myocardial infarction, and hypotension.
A tumor arising from catecholamine-producing chromaffin cells of the adrenal medulla that classically presents with headaches, diaphoresis, and palpitations in the setting of paroxysmal hypertension. Symptoms are usually episodic and tend to progress as the tumor grows. The majority of these tumors are benign. About 85% arise in the adrenal gland; the remainder being tumors derived from extra-adrenal chromaffin cells of the sympathetic paravertebral ganglia known as paragangliomas. These tumors mostly develop sporadically. Up to 40% of cases are a manifestation of a hereditary syndrome such as multiple endocrine neoplasia type 2 or Von Hippel-Lindau syndrome. The tumor was named pheochromocytoma, after its characteristic "dusky-colored tumor" appearance, by Pick in 1912.
History and exam
Key diagnostic factors
- hypertensive retinopathy
- impaired glucose tolerance/diabetes mellitus
- family history of endocrine disorders
- history of prior pheochromocytoma
- tachyarrhythmias and myocardial infarction
- panic attacks or a "sense of doom"
Other diagnostic factors
- orthostatic hypotension
- Cushing syndrome
- abdominal masses
- Multiple endocrine neoplasia (MEN) syndrome type 2A and B
- Von Hippel-Lindau (VHL) disease
- neurofibromatosis type 1 (NF1)
- succinate dehydrogenase (SDH) subunit B, C, and D gene mutations
1st investigations to order
- 24-hour urine collection for catecholamines, metanephrines, normetanephrines, and creatinine
- serum free metanephrines and normetanephrines
- plasma catecholamines
- genetic testing
Investigations to consider
- serum calcium
- serum potassium
- chromogranin A
- clonidine suppression test
- CT scan of the abdomen and pelvis
- MRI of the abdomen and pelvis
- I-123 metaiodobenzylguanidine (MIBG) scintigraphy
- 18F-fluoro-2 deoxy-D-glucose (18F-FDG) positron emission tomography (PET) or FDG, 18-F-dihydroxyphenylalanine (DOPA), Ga-68-DOTATATE
without hypertensive crisis
- Anxiety and panic attacks
- Essential or intractable hypertension
- NCCN clinical practice guidelines in oncology: neuroendocrine and adrenal tumors
- American Association of Endocrine Surgeons guidelines for adrenalectomy
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