Endocrine Abstracts

We describe the case of a 57 year old patient who was referred in 1992. He gave a past history of renal colic in 1974 and a parathyroidectomy for hypercalcaemia in 1976. A duodenal ulcer was diagnosed in 1991. His presenting complaint was of watery diarrhoea persisting over several years. His calcium had remained slightly elevated and was 2.70 millimoles per litre at referral (normal 2.15 - 2.65). Prolactin was 617 micrograms per litre (normal up to 425) and gastrin 400 picomoles per litre (normal up to 40). Other biochemistry was normal. There were no visual disturbances. Unfortunately at this time the patient was unable to have an MRI or CT scan of either his pituitary or abdomen due to obesity.

A diagnosis of Multiple Endocrine Neoplasia type 1 was made and this was confirmed in 1998 to be an exon 2 mutation in the menin gene, 512 delC.

The diarrhoea was controlled with omeprazole for some years and biochemical monitoring continued on a regular basis. In 2001 he experienced an acute attack of severe diarrhoea with profound muscle weakness and hypokalaemia. A gut hormone profile showed vasoactive intestinal peptide was 55 picomoles per litre (normal up to 30), gastrin 331 picomoles per litre, glucagon 60 picomoles per litre (normal up to 50), the rest being normal. Lanreotide was commenced to control the diarrhoea and CT scanning showed a large neuroendocrine tumour in the tail of the pancreas. Treatment options were limited by a history of deep vein thromboses and weight of 136 kilograms.

This case highlights the crucial importance of regular screening in patients with Multiple Endocrine Neoplasia type 1 and the incidence of neuroendocrine tumours producing multiple gut hormones.