Aim: To review the presentation, management and outcomes in adult patients with MEN1 attending a multidisciplinary clinic.
Methods: Case notes and electronic records were reviewed in patients attending a tertiary centre clinic for care of MEN1.
Results: Forty-eight patients were analysed; 46% were male and 54% female. Mean age was 49 years (range 1489) and 4% were deceased. Eighty-five percent had confirmed MEN1 mutations and 23% appeared to have sporadic mutations.
Eighty eight percent had developed PHPT (mean age 42 years, range 1482). Thirty three percent had developed renal stones and 17% osteoporosis. Seventy-nine percent were treated surgically and were histologically determined to have hyperplasia (27%), adenomas (23%), mixed hyperplasia-adenoma (14%) and otherwise unknown (26%). Cinacalcet was used in 4% patients for resistant disease post-surgery. Thirty-two patients (67%) had pancreatic NETs (mean age 43 years, range 1672). Of the 16 patients with gastrinomas, eight had metastatic disease. Six gastrinomas were surgically resected (including four metastatic tumours). One patient died as a result of a metastatic gastrinoma. Four patients had insulinomas (all of which were treated surgically), and two had glucagonomas. Thirteen patients (27%) developed pituitary adenomas (mean age 48 years, range 2360). Of these, six were prolactinomas (five macro, one micro), two were corticotroph adenomas and five were non-functioning. Hypopituitarism was found in five cases (two hypothyroidism, three hypogonadism). Three patients underwent curative transsphenoidal surgery; five patients were successfully managed with dopamine agonist therapy alone.
Additionally, two patients had thymic masses, one patient had multiple gastric carcinoid tumours, and there was one case of DIPNEC.
Discussion: The characteristics of MEN1 patients presenting to our service is consistent with previous reports (Pieterman et al. 2011), except presentation with PHPT was older; this may explain the higher frequency of renal stones observed. Optimal management of gastrinomas in MEN-1 remains unclear. Multicentre studies are needed to help guide treatment.