Addressing delays in the diagnosis of pheochromocytoma/paraganglioma

ABSTRACT

Introduction: Pheochromocytomas/paragangliomas (PPG) are rare tumors. In theory the diagnosis of PPG should be straightforward. In clinical practice, however, considerable delays are noted in establishing such a diagnosis.

Areas covered: We assess the characteristics of various approaches to diagnosis and localization of PPG lesions (and their relevant caveats). We also evaluate potential biases to diagnosis.

Expert opinion: A high degree of suspicion – particularly in younger patients – is required by clinicians. The availability of diagnostic means (mainly of biochemical tools) to establish the diagnosis of PPG should be increased.

KEYWORDS:

• Paraganglioma
• pheochromocytoma
• diagnosis
• probability
• sensitivity
• specificity

Article Highlights

• Pheochromocytomas/paragnagliomas (PPG) are rare tumors

• Considerable delays can be noted in establishing a diagnosis of PPG; some may be due to diagnostic access-, referral- or spectrum bias.

• Less than half of patients with PPG show ‘classical’ symptoms

• With heightened clinical suspicion of PPG, biochemical testing for plasma/urine metanephrines is necessary

• With positive biochemistry for PPG, imaging should follow

• Genetic testing should also be performed

• In the future we can anticipate that biochemical testing will also include measurement of 3-methoxytyramine, that functional imaging with somatostatin analogs will be more widely used and that the genetic evaluation of PPG will be expanded.

Acknowledgments

The authors acknowledge the helpful feedback from Prof/Drs Alejandro R Ayala (USA), Hans K Ghayee (USA), Massimo U de Martino (Italy), Lina Zabuliene (Lithuania) and Maria Alexiou (UK) in preparing this article.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.