Multiple endocrine neoplasia type 1

This diagnosis is typified by hyperparathyroidism, pituitary tumours and pancreatic tumours, and may be confirmed by finding a mutation in the MENIN gene.

General examination

To diagnose multiple endocrine neoplasia type 1 a detailed and full general examination is mandatory in the initial assessment of all patients.

Volume status should be carefully assessed in patients with diarrhoea.

Blood pressure

Blood pressure may be low in patients with anterior pituitary failure or dehydration, and elevated in patients with phaeochromocytoma.

Eyes

Corneal calcification may be apparent with long standing hypercalcaemia.

Neck and lymph nodes

Detailed examination is required to seek evidence of parathyroid masses.

Palpable lymph nodes are suggestive of metastatic disease.

Thymic hyperplasia is rarely palpable.

Abdomen

Examine for pancreatic or bowel associated masses and hepatomegaly.

Urinalysis

Seeking evidence of renal disease due to hypercalcaemia.

Skin

Fine wrinkling of the skin occurs in hypopituitarism. Pallor may also occur with a normocytic normochromic anaemia with glucocorticoid deficiency.

Thin skin, multiple bruises, pigmented striae and hirsuitism may all occur with adrenal tumours or pituitary Cushing’s. Deep pigmentation may occur with ectopic ACTH secretion.

Doughy pallid 'myxoedematous' skin may be seen with loss of thyroid function. And doughy skin with soft tissue swelling also occurs in growth hormone excess.

Glucagonoma may be associated with unusual skin changes in areas exposed to friction: necrolytic migratory erythema.

Facial angiofibromas, collagenomas and lipomas may be associated with MEN1.

Pituitary status


Visual acuity and fields

Full assessment of acuity and fields is mandatory in all patients suspected of pituitary disease to detect chiasmal compression or other involvement of the optic pathways.


Visual fundoscopy

Disc pallor is indicative of long term visual loss which may not recover after decompression of the optic pathway.

Papilloedema is an indicator of raised intracranial pressure requiring urgent investigation.


Cranial nerves III-XII

Full cranial nerve assessment is important in all patients with suspected pituitary tumours.

The nerves of the cavernous sinus are most frequently affected, though a VI nerve palsy may be a false localising sign associated with increased intracranial pressure.


Thyroid status

Specifically seek signs of thyroid dysfunction.


Musculature

Muscle wasting may occur in glucocorticoid deficiency.

Proximal myopathy and slow relaxing reflexes may occur with loss of thyroid function.


Breasts

Breasts should be examined for swelling or galactorrhoea with hyperprolactinaemia.