Multiple endocrine neoplasias

Question 1

Define:

Answer 1

AN AUTOSOMAL DOMINANT condition that is characterised by a predilection to develop tumours of endocrine glands.

These are functioning hormone producing tumours in multiple organs

Question 2

Aetiology/risk factors of MEN1:

Answer 2

• Pituitary adenomas
• Parathyroid tumours
• Pancreatic islet-cell tumours (and other endocrine tumours of the gastroenterohepatic tract e.g. gastrinomas)
• Fascial angiofibromas and collagenomas

Question 3

Aetiology/risk factors of MEN 2a:

Answer 3

• Parathyroid tumours
• Medullary thyroid cancer
• Phaeochromocytomas

Question 4

Aetiology/risk factors of MEN 2b:

Answer 4

The same as MEN 2a but also have:

• Marfanoid appearance
• Neuromas in the GI tract

Question 5

Epidemiology:

Answer 5

Very rare

Question 6

Symptoms of MEN 1:

Answer 6

Age of onset is usually in the teenage years

Symptoms may not be apparent for years and depend on the hormone being secreted

Hyperinsulinemia - hypoglycaemia

Hypersomatotrophinaemia - Acromegaly

Hyperparathyroidism - hypercalcaemia and nephrolithesis

hypergastrinemia - Zollinger- Ellison syndrom e

Hyperprolactinemia - amenorrhea

Pituitary tumours will lead to visual defects

Question 7

Symptoms of MEN 2:

Answer 7

Symptoms of medullary thyroid cancer, hyperparathyroidism and phaechromocytoma

Medullary thyroid cancer:

• Hypertension
• Episodic swelling
• Diarrhoea
• Pruritic skin lesions
• Lump in the neck

Hypercalcanemia:
-Constipation
-polyuria/polydipsia 
-kidney stones 
-depression 
-fatigue 
'Renal stones, abdo moans and psychic groans'