Multiple Endocrine Neoplasia

Question 1

Define Multiple Endocrine Neoplasia

Answer 1

Hereditary tumour syndrome characterised by the development of multiple endocrine tumours in multiple organs

Question 2

What makes up MEN-1

Answer 2

Pituitary adenoma
Pancreatic tumour
Parathyroid hyperplasia

Question 3

What makes up MEN-2A

Answer 3

Parathyroid hyperplasia
Phaeochromocytoma
Medullary thyroid carcinoma

Question 4

What makes up MEN-2B

Answer 4

Phaeochromocytoma
Medullary thyroid carcinoma
Mucosal neuromas
Marfanoid body habitus

Question 5

Aetiology of Multiple Endocrine Neoplasia

Answer 5

Autosomal dominant inheritance

MEN1 for MEN1
(RET for MEN2)

Question 6

Symptoms and signs of MEN1

Answer 6

Pituitary adenoma, pancreatic tumour, parathyroid hyperplasia

Facial angiofibroma or collagenoma
Irregular menses
Visual changes
Infertility 
Acromegaly 
Thyrotoxicosis, heat intolerance
Low-trauma fractures
Erectile dysfunction

Question 7

Symptoms and signs of MEN2A

Answer 7

Parathyroid hyperplasia, phaeo, medullary thyroid carcinoma

Phaeo (sweating, palpitations, headache)
Palpable thyroid nodule
Unexplained flushing
GI bleed - melaena, coffee-ground vomit 
Hepatomegaly

Question 8

Symptoms and signs of MEN2B

Answer 8

Phaeo, medullary thyroid carcinoma, mucosal neuroma, marfanoid body habitus

Mucosal neuroma
Arm span to upper-to-lower-body-segment-ratio

Question 9

General symptoms and signs of MEN1/2

Answer 9

Kidney stones
Weight changes
Hypertension
Headache
Palpitations
Abdominal pain
Altered bowel habit (constipation, diarrhoea)
Cushing's syndrome
Anxiety, confusion
Dehydration

Question 10

Investigations for Symptoms and signs Multiple Endocrine Neoplasia

Answer 10

MEN1: raised fasting serum gastrin, serum chromogranin A, serum prolactin, IGF-1

MEN2: raised 24h catecholamines, serum calcitonin, serum carcinoembryonic antigen + atypical cells on thyroid biopsy

MEN1/2: Raised serum PTH and calcium, 24h urine calcium variable