Delay in the diagnosis of multiple endocrine neoplasia type 1: typical symptoms are frequently overlooked

作者：Yamazaki Masanori; Suzuki Shin ichi; Kosugi Shinji; Okamoto Takahiro; Uchino Shinya; Miya Akihiro; Imai Tsuneo; Kaji Hiroshi; Komoto Izumi; Miura Daishu; Yamada Masanobu; Uruno Takashi; Horiuchi Kiyomi; Sato Ai; Miyauchi Akira; Imamura Masayuki; Sakurai Akihiro^*

来源：Endocrine Journal, 2012, 59(9): 797-807.

DOI：10.1507/endocrj.EJ12-0071

• Multiple endocrine neoplasia type I (MEN I)
• Endocrine tumor
• Diagnosis

The morbidity and mortality of individuals with multiple endocrine neoplasia type 1 (MEN I) can be reduced by early diagnosis of MENI and related endocrine tumors. To find factors contributing to early diagnosis, we collected clinical information on MENI patients through a MEN study group, %26quot;MEN Consortium of Japan%26quot; 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 MENI 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 MENI 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 MENI and inadequate screening of GEPNETs in family members were indicated. A greater understanding of MEN! may assist medical practitioners to make earlier diagnoses, to share patients%26apos; medical information and to give family members sufficient disease information.

• 出版日期2012-9-20