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Feature Article

The many faces of phaeochromocytoma

Yoon Ji Jina Rhou, Elizabeth L. Chua

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© sciepro/stock.adobe.com

Abstract

Phaeochromocytomas are rare catecholamine-secreting tumours that pose significant risk of cardiovascular morbidity and mortality and potential for metastasis. Delayed or missed diagnosis is common due to their wide spectrum of clinical manifestations.

Key Points

  • Timely diagnosis of a phaeochromocytoma is important because of the associated cardiovascular morbidity and mortality and potential for metastatic disease.
  • Clinical presentation is highly variable and features may be nonspecific, mimicking a spectrum of medical and psychological conditions.
  • The most common features of a phaeochromocytoma are hypertension, headache, sweating, palpitations and anxiety.
  • Patients may be asymptomatic, especially with the rising detection of incidental adrenal lesions.
  • Diagnosis requires biochemical assessment for catecholamine excess, followed by imaging.
  • Of people with phaeochromocytomas or paragangliomas, 40% carry an autosomal dominant germline mutation. Genetic testing should be considered for all patients.

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© sciepro/stock.adobe.com
© sciepro/stock.adobe.com