Endocrine Journal
Online ISSN : 1348-4540
Print ISSN : 0918-8959
ISSN-L : 0918-8959
ORIGINALS
Delay in the diagnosis of multiple endocrine neoplasia type 1: typical symptoms are frequently overlooked
Masanori Yamazaki, Shin-ichi Suzuki, Shinji Kosugi, Takahiro Okamoto, Shinya Uchino, Akihiro Miya, Tsuneo Imai, Hiroshi Kaji, Izumi Komoto, Daishu Miura, Masanobu Yamada, Takashi Uruno, Kiyomi Horiuchi, Ai Sato, Akira Miyauchi, Masayuki Imamura, Akihiro Sakurai
Author information
Keywords: Multiple endocrine neoplasia type 1 (MEN1), Endocrine tumor, Diagnosis
JOURNAL FREE ACCESS

2012 Volume 59 Issue 9 Pages 797-807

Browse “Advance online publication” version
Details
Download PDF (1658K)
Download citation RIS

(compatible with EndNote, Reference Manager, ProCite, RefWorks)

BIB TEX

(compatible with BibDesk, LaTeX)

Text
How to download citation
Contact us
Abstract

The morbidity and mortality of individuals with multiple endocrine neoplasia type 1 (MEN1) can be reduced by early diagnosis of MEN1 and related endocrine tumors. To find factors contributing to early diagnosis, we collected clinical information on MEN1 patients through a MEN study group, “MEN Consortium of Japan” and analyzed the time of initial symptom-dependent detection of parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors (GEPNETs) and pituitary tumors, and that of tumor detection-dependent MEN1 diagnosis in 560 patients. Main tumors were identified up to 7.0 years after symptoms appeared and there was no difference in age at the diagnosis of GEPNETs alone between probands and family members. In patients with typical symptoms (peptic ulcers, urolithiasis, fasting hypoglycemia, bone fracture/loss and amenorrhea), the mean interval between symptom manifestation and tumor detection was extended up to 9.6 years. In particular, 21.7% (5/23) of patients with amenorrhea were diagnosed with pituitary tumors in under one year. In patients with peptic ulcers (from parathyroid tumors or GEPNETs) and urolithiasis (from parathyroid tumors), the interval was positively correlated with age at tumor detection. The interval between tumor detection and MEN1 diagnosis was also prolonged to approximately four years in patients with fasting hypoglycemia (from GEPNETs) and amenorrhea. A substantial delay in the diagnosis of symptom-related tumors and subsequent MEN1 and inadequate screening of GEPNETs in family members were indicated. A greater understanding of MEN1 may assist medical practitioners to make earlier diagnoses, to share patients’ medical information and to give family members sufficient disease information.

Content from these authors
© The Japan Endocrine Society
Previous article Next article
Favorites & Alerts

Recently viewed articles
Predecessor

Endocrinologia Japonica

Share this page
feedback
 Top