MEN Flashcards
Define multiple endocrine neoplasia?
an autosomal dominant condition characterised by a predilection to develop tumours of endocrine glands.
summarise the epidemiology of MEN?
VERY RARE
What is the inheritance of MEN?
Autosomal dominant
what are the features of MEN 1?
pitutiary adenoma
Parathyroid tumours
Pancreatic islet-cell tumours (and other endocrine tumours of the gastroenterohepatic tract e.g. gastrinomas)
Fascial angiofibromas and collagenomas
What are the features of MEN 2 ?
Parathyroid tumours
Medullary thyroid cancer
Phaeochromocytomas
What are the features of MEN2b
Same as MEN 2a along with:
Marfanoid appearance
Neuromas of the GI tract
summarise the pattern of features of the different types of MEN?
what is the age of onset of MEN 1?
age of onset usually teenage years
symptoms of tumours may not be apparent for years
diagnosis is commonly made in 4th decade of life
what are the symptoms and signs of MEN 1?
Hyperparathyroidism –> symptoms of hypercalcaemia + nephrolithiasis
Hypergastrinaemia –> Zollinger-Ellison syndrome
Presence of multiple ulceration in multiple sites, large ulcers and concomitant diarrhoea should alert the clinician to the presence of an underlying gastrinoma
Hyperinsulinaemia –> hypoglycaemia
Hyperprolactinaemia –> amenorrhoea
Hypersomatotrophinaemia –> acromegaly
Pituitary tumours may cause visual defects
What are the signs and symptoms of MEN 2?
Symptoms of medullary thyroid cancer, hyperparathyroidism or phaeochromocytoma
Medullary thyroid cancer symptoms:
- Hypertension
- Episodic sweating
- Diarrhoea
- Pruritic skin lesions
- Lump in the neck
Hypercalcaemia symptoms – renal stones, abdominal moans and psychic groans
- Constipation
- Polyuria/polydipsia
- Depression
- Kidney stones
- Fatigue
what are the symptoms of medullary thyroid cancer?
- hypertension
- episodic sweating
- diarrhoea
- pruritic skin lesions
- lump in neck
what are the symptoms of hypercalcaemia?
RENAL STONES, ABDOMINAL MOANS AND PSYCHIC GROANS
- constipation
- polyuria/ polydispsia
- depression
- kidney stones
- fatigue
what are the appropriate investigations for MEN 1?
Screening first or second degree relatives
Hormone hypersecretion blood tests
DNA testing
what are the appropriate investigations for MEN2?
Phaeochromocytoma test - 24 hr urine metanephrines
Can be followed by abdominal CT/MRI
Medullary thyroid cancer test - elevated calcitonin concentration
Can also be investigated with ultrasound and FNA
Parathyroid tumours - simultaneously elevated Ca2+ and PT
