MEN1: the full house
Barbara McGowan, Annabel Fountain, Owais Chaudhri, Puja Mehta, Tricia Tan, Emma Hatfield, Niamh Martin, Jeannie Todd & Karim Meeran
This gentleman was diagnosed with hyperparathyroidism at the age of 34 and was found to have multiple manifestations of MEN1.
Hyperparathyroidism: He was diagnosed with hyperparathyroidism and underwent a parathyroidectomy with removal of 2 glands. Four years later calcium levels were raised once again and two further hyperplastic glands were removed, with cure of his hypercalcaemia.
Gastrinoma and other pancreatic islet cell tumours: He developed heartburn, nausea, vomiting and abdominal pain, and on upper GI endoscopy was found to have moderate duodenitis. He was started on lansoprazole with immediate relief of his symptoms. Gut hormones were elevated suggestive of a gastrinoma and other islet cell tumours. Imaging revealed multiple duodenal and pancreatic lesions. Calcium stimulation tests revealed no discrete gastrin releasing foci amenable to surgery.
Pituitary disease: He complained of impotence, reduced libido, weight gain and appeared Cushingoid. Cushings disease and a prolactinoma were diagnosed on the basis of elevated urinary cortisols, failure to suppress cortisol on a low dose dexamethasone suppression test, inferior petrosal sinus sampling and elevated prolactin. Two pituitary lesions were seen on pituitary MRI. The patient underwent trans-sphenoidal hypophysectomy. He was started on hydrocortisone, DDAVP, thyroxine and testosterone replacement.
Adrenal lesions: A CT scan of the adrenals showed bilateral nodular adrenal enlargement. Phaeochromocytoma was excluded on the basis of normal catecholamine excretions.
Other lesions: He developed lipomas on his zygomatic arch and thigh and an angiofibroma on the nose.
Genetic testing: MEN1 was confirmed. One of his 3 children has an MEN1 mutation.
Conclusions: Our patient developed a full house of endocrine neoplasias. He presented a diagnostic and management challenge requiring a multi-disciplinary approach to ensure optimal treatment.