Endocrine Abstracts

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare, autosomal dominant disease characterized by the coexistence of at least two of the following: primary hyperparathyroidism (PHPT), neuroendocrine tumors (NET) and pituitary tumors. The aim of the study was to evaluate epidemiology, clinical features and management of MEN1 patients in two referral centers in Warsaw, Poland.

Material and Methods: Study group consisted of 52 patients, aged from 18 to 74 (mean: 45.5, s.d. = 14), diagnosed with MEN1 and followed-up from 2015 to 2020 in two tertiary centers. 71% of patients were women, 29% were men. Data was collected using a pre-prepared form concerning demographics, medical and family history, quality of life, as well as, physical examination, laboratory, imaging, histopathological and genetic tests results.

Results: In the studied group, the first symptoms of the disease appeared on mean age of 29.6 (range: 9–60; s.d. = 12.0). The most often were: nephrolithiasis (33%), hypercalcemia (13%) and menstrual disorders (11% of women). The diagnosis of MEN1 was made on average age of 36.9 (s.d. = 13.1). Only 37% underwent genetic testing. In 52% patients the first diagnosed component of disease was PHPT, in 33% pituitary tumor, in 13% NET. 94% of subjects developed PHPT, 85% NET, 67% pituitary tumor. Every second patient manifested all three main components of the disease. Based on dual-energy X-ray absorptiometry, 76% of patients had reduced bone density and 8% of them underwent a pathological fracture. Nephrolithiasis was found in 60% of people and peptic ulcer disease in 26%. In addition to typical for MEN1, 15% of patients developed other malignancies: papillary thyroid, clear cell kidney, breast, endometrial cancers and melanoma. 85% was also diagnosed with benign neoplasms of: adrenal glands (45%), kidney/liver/spleen cysts (31%), lung nodules (13%). Up to 62% of people underwent at least one parathyroidectomy, yet 55% of them still have hypercalcemia. In the group of patients suffering from pituitary tumors 31% underwent surgery, whereas in the case of NET – 55%. Treatment with somatostatin analogues was initiated in 49%.

Conclusions: In this group, MEN1 was diagnosed with a long delay from the disease onset. The discrepancy between number of women and men being followed-up may indicate its underdiagnosis in men. PHPT was proved to be the most difficult component to manage. Frequent coexistence of other tumors, both malignant and benign, has also been demonstrated. These results suggest a need for improvement at every level of healthcare, from detection to management.