Pheochromocytoma Flashcards
What is phaeochromocytoma?
Tumour of the adrenal medulla composed of chromaffin cells secreting catecholamines
What are the signs and symptoms of phaeochromocytoma?
The signs and symptoms of a pheochromocytoma are those related to sympathetic nervous system hyperactivity.
Classic triad:
- Headaches due to hypertension
- Tachycardia and tremors
- Excessive sweating
Symptoms come in bursts. Palpitations, and pallor are also associated
What are the different causes of phaeochromocytoma?
Familial syndromes:
- Multiple endocrine neoplasia (MEN) syndrome.
- Neurofibromatosis.
- Von Hippel-Lindau (VHL) disease.
Somatic genetic mutations
What do blood tests for phaeochromocytoma often show?
Blood glucose → raised
Calcium → raised
Hb → elevated
Plasma catecholamines → raised
What would you do as a first order of investigations in suspected phaeochromocytoma?
- Blood test
2. 24 hour urine collection (for total catecholamines, vanillylmandelic acid (VMA) and metanephrines)
What are metanephrines?
Breakdown product of catecholamines
What are the main catecholamines?
epinephrine (adrenaline), norepinephrine (noradrenaline), and dopamine.
Where are catecholamines produced?
Adrenal medulla
How would you diagnose phaeochromocytoma?
- Urinary catecholamines and metabolite test (if negative, diagnosis excluded)
- Rest plasma catecholamines
- CT to localise tumour
What are the complications of phaeochromocytoma?
Hypertensive crisis
Cardiac arrhythmias
How would you manage phaeochromocytoma?
Surgical resection of the tumour is the treatment of choice
Pre-operative treatment with alpha-blockers and beta-blockers is required to control blood pressure and prevent intraoperative hypertensive crises
What is the prognosis for phaeochromocytoma?
After surgery, a 24-hour urine collection for total catecholamines, metanephrines and VMA is required two weeks after operation. If results are normal, the prognosis is excellent
The five-year survival rate for non-malignant phaeochromocytoma is over 95% but for malignant phaeochromocytomas it is less than 50%.
A 37 year old woman has had intermittent headaches, palpitations and excessive sweating for 3 months. These episodes are associated with sweating and pallor and occur three times per week. Her mother was found to have hypertension at the age of 35. Her pulse rate is 100 bpm and BP 198/72 mmHg. She has no other abnormal physical signs. Urinalysis shows a trace of protein only.
Which investigation is most likely to reveal the underlying diagnosis?
A) Plasma cortisol B) Plasma free metanephrine C) Plasma renin:aldosterone ratio D) Thyroid function tests E) Ultrasound scan of kidney
Phaeochromocytoma has a strong genetic element, will present as episodes of headaches, palpitations, sweating, pallor, patient will be hypertensive. Diagnose with plasma free metanephrine
A 25 year old man with severe hypertension has catecholamine excess. He is found to have bilateral phaeochromocytoma. His mother has been treated for medullary carcinoma of the thyroid gland.
Which genetic endocrine condition is likely to be present?
A) Kleinfelter syndrome B) Multiple endocrine neoplasia (MEN2) C) Neurofibromatosis type 1 (NF1) D) Succinate dehydrogenase (SDH) mutation E) Von hippel lindau syndrome
B - MEN2. Phaeochromocytoma, medullary thyroid cancer, parathyroid cancer.
A 48 year old woman has paroxysmal headaches, sweating and palpitations. Examination during one of these episodes shows that her BP is 230/135 mmHg. As part of her investigation, a CT scan of her abdomen shows a tumour of the adrenal gland.
Which hormonal secretion is most likely to be increased?
A) ACTH B) Adrenaline/epinephrine C) Aldosterone D) Cortisol E) Renin
B – Adrenaline. Paient has phaechromocytoma, will have raised adrenaline. Test is serum free metanephrines.
