A complex case of MEN 1.

Preeshila Behary, Niamh Martin, Humera Shaikh, Katie Wynne, Karim Meeran

Case Report: A 60 year old woman first presented in 1990 to her local hospital with symptoms suggestive of gastritis and peptic ulcer disease.  Previously she was managed with ranitidine and had gastric surgery in 1998.  Incidentally her calcium and PTH were found to be raised at that time.  A single gland parathyroidectomy was performed.

A year later, she complained of headaches and a head MRI revealed a pituitary adenoma with extension to the cavernous sinus.  She was seen in our Endocrine clinic where it was noted she appeared Cushingoid.  A low dose dexamethasone suppression test and oral glucose tolerance test confirmed a biochemical diagnosis of pituitary cushing’s and acromegaly. She underwent transphenoidal hypophysectomy in 1999. This was followed with radiotherapy as her cortisol and growth hormone levels failed to normalise post-operatively.

Her calcium started rising again and remained persistently >3 mmol/L with PTH >150 pmol/L. She required several admissions to hospital for intravenous fluids and pamidronate.  Eventually in 2001, she underwent neck exploration where 3 hyperplastic parathyroid glands were removed.  Her calcium transiently came down but she required a third neck re-exploration in 2004 where another hyperplastic parathyroid gland was removed.

Her fasting gut hormones showed raised gastrin level and imaging involving CT abdomen, Octreotide and PET scans were all consistent with a neuroendocrine tumour within the tail of the pancreas.  Incidentally a non-functioning adrenal lesion was also found. They were both managed conservatively.

Currently her residual pituitary tumour, gastrinoma and adrenal tumour remained unchanged on serial imaging. Her calcium, latest 24 hour urinary free cortisol, growth hormone and IGF 1 are stable.

Discussion: Around 90% of MEN 1 patients first present with primary hyperparathyroidism.  Our lady presented with gastrinoma related symptoms before hypercalcaemia.  She has no family history of MEN 1, raising the possibility of a de novo mutation.  A genetic analysis was not sought as she has no children or siblings.  A multidisciplinary team approach is crucial and there is no doubt, this has played a significant role in the successful ongoing management of this lady.