Phaeochromocytoma

Question 1

Define phaeochromocytoma.

Answer 1

A tumour arising from catecholamine-producing chromaffin cells of the adrenal medulla that classically presents with headaches, diaphoresis, and palpitations in the setting of paroxysmal hypertension.

Question 2

Explain the aetiology/risk factors of phaeochromocytoma.

Answer 2

Multiple endocrine neoplasia (MEN) syndrome type 2A and B
Von Hippel-Lindau (VHL) disease
Succinate dehydrogenase (SDH) subunits B, C, and D gene mutations

Question 3

Summarise the epidemiology of phaeochromocytoma.

Answer 3

Phaeochromocytoma is a rare condition; the annual incidence in the general population is around 0.6 per 100,000 person-years.

Question 4

Recognise the presenting symptoms of phaeochromocytoma. Recognise the signs of phaeochromocytoma on physical examination.

Answer 4

Headache
Palpitations
Diaphoresis
Hypertension
Hypertensive retinopathy
Pallor
Impaired glucose tolerance/diabetes mellitus
Tachyarrhythmias and myocardial infarction
Panic attacks or a ‘sense of doom’
Orthostatic hypotension
Hypercalcaemia
Diarrhoea

Question 5

Identify appropriate investigations for phaeochromocytoma and interpret the results.

Answer 5

24-hour urine collection for catecholamines, metanephrines, normetanephrines, and creatinine

Serum free metanephrines and normetanephrines

Plasma catecholamines

Genetic testing