Case study of aggressive MEN-1, complicated by non-adherence to routine follow-up
M Bamford, K Alexiodou, T Tan, Hammersmith Hospital, Imperial Healthcare NHS Trust, London
Introduction: Multiple endocrine neoplasia type 1 is an autosomal dominant genetic condition in which there is a predisposition to developing tumours of the pituitary, pancreas and parathyroid glands. It is a rare condition that can be inherited or can arise de-novo from a spontaneous mutation. The prognosis for untreated MEN-1 is poor with a 50% mortality by age 50. Prompt diagnosis is crucial for identification of patients and affected relatives in order to monitor for early occurrence of complications which can be treated promptly.
Case report: A 30-year-old gentleman was referred to Hammersmith Hospital Endocrinology with bilateral adrenal nodules on CT KUB. He complained of an 18-month history of watery diarrhoea (up to five times a day) and intermittent nausea and vomiting without obvious relation to food.
He had MEN-1, diagnosed at a young age in Australia following episodes of hyperinsulinaemic hypoglycaemia. Genetic analysis showed this to be a sporadic mutation. He had known primary hyperparathyroidism, macroprolactinoma and multiple pancreatic tumours requiring 2 resections. His second operation was complicated by the development of a pancreatic pseudocyst that required drainage. He had intermittent hypoglycaemias thought secondary to residual insulinoma but this was managed with diet. He had been under regular follow up by his local endocrinology service but he discontinued his regular monitoring and did not seek medical attention from 2012 to 2019.
An MR pituitary showed a macroprolactinoma of 16mm, previously 7 x7mm in 2011. His prolactin was elevated at 78,316 with resultant suppression of LH & FSH and testosterone. An MR pancreas and abdomen showed multiple pancreatic neuro-endocrine tumours and bilateral adrenal lesions. His gut hormone profile showed elevated gastrin, pancreatic polypeptide and glucagon. Plasma metanephrines were normal. CT thorax showed a 12mm lesion in the right lung base. A Ga-68 DOTATATE scan showed a range of avidity in the pancreatic lesions and no evidence of increased uptake in the adrenal lesions, ruling out functional phaeochromocytoma.
Due to his multi-site disease, he was managed by multiple specialties.
1. In regards to his macroprolactinoma and hyperprolactinaemia, he was started on cabergoline by his endocrinology team with resultant suppression of prolactin from 78,316 to 16,000.
2. He was referred to the respiratory and cardiothoracic team for assessment and management of the right lower lobe lesion. He underwent a VATS guided wedge resection of the lesion which confirmed a neuroendocrine tumour but it was not possible to distinguish between a primary bronchial NET or a metastasis.
3. He was referred to hepatobiliary surgery for total pancreatectomy, right adrenalectomy and splenectomy.
Unfortunately, following hepatobiliary surgery, he died postoperatively from pulmonary embolism.
Discussion: This case shows the importance of regular monitoring of patients with diagnosed MEN-1. These neoplasms are unpredictable in their frequency for occurrence and their malignant potential. Patients diagnosed at a young age may struggle with their diagnosis and the significant medical treatment and follow-up required and so may choose to disengage with healthcare until disease becomes complex and severe; at which point treatment options may either be limited or carry significant risk. If complications are identified at an earlier stage, the risk of morbidity and mortality can be significantly reduced.