Multiple Endocrine Neoplasia I (Wermer‘s Syndrome), Forms of Clinical Manifestation, 5 Case Studies

Czech version

Authors: Karolína Drbalová ¹; Kateřina Herdová ¹; Petr Krejčí ¹; Monika Nývltová ¹; Svatopluk Solař ¹; Lenka Vedralová ¹; Pavel Záruba ²; David Netuka ³; Petr Bavor ⁴
Authors‘ workplace: Interní ambulantní oddělení Interní kliniky 1. LF UK a ÚVN – Vojenská fakultní nemocnice Praha ¹; Chirurgická klinika 2. LF UK a ÚVN – Vojenská fakultní nemocnice Praha ²; Neurochirurgická a neuroonkologická klinika 1. LF UK a ÚVN – Vojenská fakultní nemocnice Praha ³; Chirurgická klinika 2. LF UK a FN v Motole, Praha ⁴
Published in: Vnitř Lék 2016; 62(Suppl 3): 140-149
Category: Case Reports

Overview

Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. 95 % of patients show very early manifestation of hyperparathyroidism, often before 40 years of age. Multiple adenomas gradually involve all four parathyroid glands. The first clinical sign of MEN1 includes recurrent nephrolithiasis. The second most frequent manifestation of MEN1 is pancreatic area (pancreas, stomach and duodenum), again multiple malignancies of varying degree which can metastasize. Most often gastrinomas and insulinomas are involved. Pituitary adenomas occur in about one third of MEN1 patients and tend to be larger and less responsive to treatment. Tumors appearing most often are prolactinomas, tumors producing growth hormone, or afunctional adenomas. The other endocrine tumors include carcinoids and adrenal lesions. In the last year we have registered four MEN1 syndrome patients in our center and one patient has been already followed since 2008. In four out of five patients, nephrolithiasis after 30 years of age was the first clinical symptom, but only one of theses cases resulted in MEN1 diagnosis. In all patients, the clinical symptoms intensified and the diagnosis was established between 36 and 40 years of age. A crutial factor is a cooperation with the urology examination of kidney stones formation in young individuals with nephrolithiasis in order to reveal the potential cases of MEN1 syndrome very early on. Consider the MEN1 genetic diagnostics if recurrent primary hyperparathyroidism or recurrent gastroduodenal ulcer disease appear in patients under 40 years of age.

Key words:
carcinoid – gastrinoma – hyperparathyroidism – insulinoma – MEN1 – multiple endocrine neoplasia – nefrolithiasis – neuroendocrine tumor – pancreatic area – pituitary gland

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