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Diagnosis of silent pheochromocytoma and paraganglioma
1a University of Sydney, Sydney, NSW, Australia and Royal North Shore Hospital, St Leonards, NSW 2065, Australia. jclifton@med.usyd.edu.au.
Insights
Silent pheochromocytomas (tumors of adrenal medulla) and paragangliomas can be fatal if undiagnosed. Early detection through imaging or genetic screening is crucial for managing these rare tumors.
Area of Science:
- Endocrinology
- Oncology
- Medical Diagnostics
Background:
- Pheochromocytomas and paragangliomas can present with severe symptoms or be asymptomatic despite high catecholamine levels.
- Hypertension is not always present and can be intermittent.
- Autopsy studies suggest a high fatality rate for undiagnosed tumors at initial presentation.
Purpose of the Study:
- To review the challenges and diagnostic pitfalls of identifying silent pheochromocytomas and paragangliomas.
- To emphasize the importance of early diagnosis for presymptomatic tumors.
- To highlight methods for detecting these tumors before symptoms arise.
Main Methods:
- Review of existing literature on pheochromocytoma and paraganglioma diagnosis.
- Analysis of diagnostic challenges in asymptomatic cases.
- Discussion of incidental findings and genetic susceptibility screening.
Main Results:
- Many pheochromocytomas/paragangliomas are diagnosed incidentally or through surveillance in at-risk individuals.
- Diagnosis can be challenging due to the absence of typical symptoms.
- Autopsy data indicates a significant risk of mortality from first presentation.
Conclusions:
- Increased diagnostic diligence for presymptomatic pheochromocytomas/paragangliomas is necessary.
- Early detection strategies, including incidental findings and genetic screening, are vital.
- Addressing diagnostic challenges is key to improving outcomes for patients with these tumors.
Abstract:
Pheochromocytomas or functioning paragangliomas can present in a dramatic manner with headache, palpitations and sometimes shock, but many occur with few symptoms despite at times markedly elevated catecholamine levels. Hypertension is not invariable, and may be paroxysmal. Increased diligence in the diagnosis of presymptomatic pheochromocytoma/paraganglioma is warranted from autopsy studies, suggesting that many of these tumors may be fatal at first presentation. Fortunately, an increasing number of pheochromocytomas/paragangliomas are now diagnosed before the advent of symptoms, either as an incidental finding on abdominal imaging or by targeted surveillance in subjects with known genetic susceptibility. The challenges and pitfalls associated with diagnosis of these silent pheochromocytoma/paragangliomas are reviewed in this article.
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