Phaeochromocytoma

This includes catecholamine secreting tumours of the adrenal medulla, extra-adrenal paragangliomas, familial phaeochromocytoma, Von Hippel Lindau and succinate dehydrogenase mutations. Diagnosis is usually made by measuring elevated urine metanephrines.

General examination

To diagnose phaeochromocytoma a detailed and full general examination is mandatory in the initial assessment of all endocrine patients.

Marfanoid habitus may be seen in multiple endocrine neoplasia type 2b.

Blood pressure

Blood pressure will typically be elevated, but may revert to normal between attacks.

Skin and mucous membranes

Neurofibromata may be obvious but 'cafe au lait' patches and axillary freckling need to be sought in neurofibromatosis.

Mucosal neuromas may be seen in mulitple endocrine neoplasia type 2b.

Abdomen

Gentle examination of the abdomen should be performed for possible masses. Deep palpation is inappropriate as this may trigger an attack. Renal and epidydimal masses should also be sought in patients with VHL.

Lymph nodes

Approximately 10% of patients with phaeochromocytoma may have malignant disease.

Thyroid

This should be checked in all patients presenting with possible phaeochromocytoma due to the association of medullary cell carcinoma with multiple endocrine neoplasia type 2.

Thyroid status

Thyrotoxicosis may mimic the clinical features of a pheaochromocytoma.

Pituitary status

Examine pituitary status in all patients, including the skin, musculature, visual acuity, fields and fundoscopy, and cranial nerve examination. Examine for signs of functioning pituitary tumours if indicated: acromegaly, Cushing’s or prolactinoma.

Pituitary tumours are very rarely associated with phaeochromocytomas. Clinical examination and baseline assessment of pituitary function is therefore appropriate, though routine imaging is unnecessary.

Eyes, visual fields and fundoscopy

Corneal calcification may be seen in MEN2a.

Visual field defects may indicate possible pituitary disease in MEN1 or retinal involvement in VHL

Fundoscopy should seek signs of hypertensive retinopathy in all patients, as well as possible retinal lesions in VHL.

Neurological system

Full neurological examination is necessary due to the association of phaeochromocytomas with haemangioblastomas in VHL, which can occur through out the central nervous system.

Urine microscopy

Urine should be analysed in all patients with phaeochromocytoma seeking evidence of end organ damage due to hypertension or hypercalcaemia, but also as a screen for haematuria and malignant cells in VHL.