Presents 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 tumour (open or laparoscopic adrenalectomy). For unresectable tumours, alternative approaches include chemotherapy or radiopharmaceuticals.
Complications include hypertensive crisis, myocardial infarction, and hypotension.
A tumour 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 tumour grows. The majority of these tumours are benign. About 80% to 90% arise in the adrenal gland; the remainder being extra-adrenal in origin and most commonly found in the head and neck. These tumours 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 tumour was named phaeochromocytoma, after its characteristic 'dusky-coloured tumour' appearance, by Pick in 1912.
History and exam
Key diagnostic factors
- presence of risk factors
- hypertensive retinopathy
- impaired glucose tolerance/diabetes mellitus
- family history of endocrine disorders
- history of prior phaeochromocytoma
- 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
- MRI of the abdomen and pelvis
- CT scan of the abdomen and pelvis
- I-123 metaiodobenzylguanidine (MIBG) scintigraphy
- 18F-fluoro-2 deoxy-D-glucose (18F-FDG) positron emission tomography (PET)
without hypertensive crisis
- Anxiety and panic attacks
- Essential or intractable hypertension
- NCCN clinical practice guidelines in oncology: neuroendocrine and adrenal tumors
- European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma
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