Endocrine Abstracts (2016) 40 P13 | DOI: 10.1530/endoabs.40.P13

Multiple endocrine neoplasia type 1 - retrospective analysis of five families

Mara Ventura, Miguel Melo, Leonor Gomes, Joana Saraiva, Luísa Barros, Dírcea Rodrigues, Daniela Guelho, Luís Cardoso, Nuno Vicente, Diana Martins, Diana Oliveira, Adriana Lages & Francisco Carrilho

University and Hospital Center of Coimbra, Coimbra, Portugal.

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome with autosomal dominant inheritance. It mainly involves the parathyroid glands (90%), the pancreas (60%) and the pituitary (40%). More than 300 different MEN1 germline mutations were already described.

Objective: To characterize families with MEN1 followed at the Department of Endocrinology of the University and Hospital Center of Coimbra, Portugal, from 1990 until 2015.

Methods: Data collection from clinical records of patients admitted to the Department of Endocrinology with a confirmed diagnosis of MEN1.

Results: A total of 14 patients with MEN1 mutation were identified, grouped into five families. Of the patients studied, 50% were women, with a mean age at diagnosis of 35.4±14.3 years. Patients were followed for 11.1±8.8 years after diagnosis and the survival rate was 93%. On average, each patient had 2.7±1.4 tumors. Primary hyperparathyroidism was present in 64% of patients and was the first manifestation in 43%. On the other hand, 43% of patients had pituitary adenoma and this was the initial manifestation in 22% of the cases. Neuroendocrine tumors of the pancreas were found in 43% of the cases (83% nonfunctioning) and were the first manifestation in 7% of the patients. Adenomas of the adrenal glands were found in 50% of the patients, and were the first manifestation in 7% of the cases. Five different mutations were found: c.1546delC, c.1357C> T, 735del14, c.1A> T and c.637delG. The most frequently comorbidities observed were urolithiasis (43%), osteoporosis/osteopenia (36%) and hypertension (21%). Half of the patients studied had evidence of pulmonary nodules and in 43% of these the diagnosis of bronchial carcinoid was confirmed. Metastatic disease occurred in 14% of patients.

Conclusions: MEN1 is a rare entity in which an insightful clinical suspicion is essential to enable timely diagnosis of the syndrome and of its various components, since the prognosis improves with early detection of its characteristic neoplasias.