Phaeochromocytoma
Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- headache
- palpitations
- diaphoresis
- hypertension
- hypertensive retinopathy
- pallor
- 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
- hypercalcaemia
- Cushing syndrome
- diarrhoea
- fever
- papilloedema
- abdominal masses
- tremors
Risk factors
- Multiple endocrine neoplasia type 2 (MEN2)
- Von Hippel-Lindau (VHL) disease
- succinate dehydrogenase (SDH) subunit B, C, and D gene mutations
- neurofibromatosis type 1 (NF1)
Diagnostic investigations
1st investigations to order
- plasma free metanephrines or 24-hour urine fractionated metanephrines and normetanephrines
- genetic testing
Investigations to consider
- FBC
- 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)
Treatment algorithm
hypertensive crisis
without hypertensive crisis
Contributors
Authors
Bridget Sinnott, MD
Professor of Medicine
Medical College of Georgia
Augusta
GA
Disclosures
BS declares that she has no competing interests.
Acknowledgements
Dr Bridget Sinnott would like to gratefully acknowledge Dr Sidhbh Gallagher, a previous contributor to this topic. SG declares that she has no competing interests.
Peer reviewers
Betul A. Hatipoglu, MD
Clinical Endocrinologist and Research Scientist
Department of Endocrinology, Diabetes, and Metabolism
Cleveland Clinic
Cleveland
OH
Disclosures
BAH declares that she has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Neumann HPH, Young WF Jr, Eng C. Pheochromocytoma and paraganglioma. N Engl J Med. 2019 Aug 8;381(6):552-65. Abstract
Lenders JW, Duh QY, Eisenhofer G, et al; Endocrine Society. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42.Full text Abstract
Martucci VL, Pacak K. Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment. Curr Probl Cancer. 2014 Jan-Feb;38(1):7-41.Full text Abstract
Plouin PF, Amar L, Dekkers OM, et al; Guideline Working Group. European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. Eur J Endocrinol. 2016 May;174(5):G1-10.Full text Abstract
Kunz PL, Reidy-Lagunes D, Anthony LB, et al; North American Neuroendocrine Tumor Society. Consensus guidelines for the management and treatment of neuroendocrine tumors. Pancreas. 2013 May;42(4):557-77.Full text Abstract
Pang Y, Liu Y, Pacak K, et al. Pheochromocytomas and paragangliomas: from genetic diversity to targeted therapies. Cancers (Basel). 2019 Mar 28;11(4). Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Anxiety and panic attacks
- Essential or intractable hypertension
- Hyperthyroidism
More DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: neuroendocrine and adrenal tumors
- American Association of Endocrine Surgeons guidelines for adrenalectomy
More Guidelines
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