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.
A family history may be diagnostic or suggestive of familial phaeochromocytomas, for example sudden unexpected deaths.
Phaeochromocytomas may also be associated with multiple different syndromes.
Ask about parathyroid problems or thyroid cancers for multiple endocrine neoplasia type 2; pituitary problems for multiple endocrine neoplasia type 1 or succinate dehydrogenase mutations; renal cell carcinoma for succinate dehydrogenase B mutations or Von Hippel Lindau (VHL); renal or pancreatic cysts and epididymal or broad ligament cystadenomas in VHL; skin or mucosal lesions in neurofibromatosis or multiple endocrine neoplasia type 2; and, neurological problems in VHL or neurofibromatosis.
Intermittent or severe hypertension in a young person demands investigation for possible phaeochromocytoma.
Although typically this occurs in acute attacks, some patients with phaeochromocytoma describe a more generalised increase in anxiety.
Typical attacks include rapid regular palpitations.
Although this may have many other causes, patients with phaeochromocytoma may present with an apparent 'acute abdomen'.
Anorexia and weight loss are alarm symptoms for possible malignant phaeochromocytoma.
Ask the patient to describe exactly what happens.
Typically people with a phaeochromocytoma will describe episodes of sudden intense fear, with palpitations, anxiety, looking pale and clammy and sometimes collapsing.
Precipitants may suggest an alternative cause. For example, if they occur after fasting they may be due to hypoglycaemia; postural attacks may be due to orthostatic hypotension of any cause; and, sleep deprivation may trigger epileptiform attacks.
Phaeochromocytoma attacks tend to occur at any time although specific triggers may provide a clue to the anatomical location of an extra-adrenal lesion, for example attacks following micturition occur with bladder paragangliomas.
Phaeochromocytoma attacks tend to be of sudden onset and stop suddenly, whereas anxiety attacks may build and tend to be triggered by circumstances.
Phaeochromocytoma attacks tend to start and stop abruptly. Epileptic seizures may be followed by a headache or exhaustion.
Typically the patient will look pale and may be clammy. Flushing or redness implies an alternative cause, for example menopausal flushing or carcinoid syndrome.
Breathlessness, wheeze or diarrhoea may indicate an alternative pathology, for example carcinoid syndrome, incontinence may suggest epilepsy, the immediate need to pass urning may suggest a supraventricular tachycardia.
Untreated obstructive sleep apnoea leads to chronic elevation of catecholamines and so false positive biochemical screening tests. Assess using Epworth sleepiness score.
Almost all antidepressants may lead to false positive urine metanephrine results.
Nocturia, thirst, renal colic, depression, constipation, or depression may be symptoms of hypercalcaemia, associated with phaeochromocytomas in multiple endocrine neoplasia type 2a.
Epididymal and broad ligament cystadenomas are also associated with VHL.
As well as phaeochromocytomas, various neurological problems may occur in VHL. Retinal haemangioblastomas may lead to visual loss and haemangioblastomas may arise anywhere within the central nervous system typically affecting the posterior fossa leading to poor coordination.
Phaeochromocytomas have also been described in patients with pituitary tumours in patients with MEN1 and with SDHB mutations, though these are very rare associations.