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.
- 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.