Multiple Endocrine Neoplasia

Question 1

What is Multiple Endocrine Neoplasia?

Answer 1

predilection to develop tumours of endocrine glands.

Question 2

Describe the aetiology of Multiple Endocrine Neoplasia

Answer 2

Autosomal dominant inheritance

Question 3

Describe the pattern of features in MEN1

Answer 3

Pituitary adenomas
Parathyroid tumours
Pancreatic islet-cell tumours (+ other endocrine tumours of the gastroenterohepatic tract e.g. gastrinomas)

Question 4

Describe the pattern of features in MEN2a. What acronym can be used for this?

Answer 4

Thyroid: Medullary thyroid cancer
Adrenal: Phaeochromocytomas
Parathyroid hyperplasia
TAP

Question 5

Describe the pattern of features in MEN2b

Answer 5

Same as MEN 2a +
Marfanoid appearance
Neuromas of the GI tract

Question 6

Describe the epidemiology of MEN

Answer 6

VERY RARE

Question 7

List symptoms of MEN1 depending on the organ affected

Answer 7

Hyperparathyroidism: hypercalcaemia + nephrolithiasis
Hypergastrinaemia: Zollinger-Ellison syndrome (results in peptic ulcers)
Hyperinsulinaemia: hypoglycaemia
Hyperprolactinaemia: amenorrhoea
Hypersomatotrophinaemia: acromegaly
Pituitary tumours may cause visual defects

Question 8

Describe onset of symptoms in MEN1

Answer 8

Onset usually in teens
However, sx of tumours may not become apparent for years
Dx commonly made in 4th decade of life
Sx + signs dependent on organs affects

Question 9

Describe symptoms of MEN2

Answer 9

Sx of medullary thyroid cancer, hyperparathyroidism or phaeochromocytoma

Question 10

List 5 medullary thyroid cancer symptoms in MEN2

Answer 10

HTN 
Episodic sweating  
Diarrhoea  
Pruritic skin lesions  
Lump in the neck

Question 11

List 5 hypercalcaemia symptoms in MEN2

Answer 11

Constipation  
Polyuria/ polydipsia 
Depression  
Kidney stones  
Fatigue

Question 12

List 3 investigations for MEN1

Answer 12

Screening 1st or 2nd degree relatives
Hormone hypersecretion blood tests
DNA testing

Question 13

List 3 types of investigation for MEN2

Answer 13

Phaeochromocytoma test: 24 hr urine metanephrines
Can be followed by abdo CT/ MRI
Medullary thyroid cancer test: elevated calcitonin concentration
Can also be investigated with US + FNA
Parathyroid tumours: simultaneously elevated PTH + Ca2+

Question 14

What 3 signs indicate presence of Zollinger-Ellison syndrome?

Answer 14

Multiple ulcerations in multiple sites
Large ulcers
Concomitant diarrhoea