Current Status of Clinical Care for Familial Endocrine Tumor Syndromes in Japan

Abstract

Abstract. We performed nationwide questionnaire-based surveys to characterize the current status of medical services for endocrine tumor syndromes, such as multiple endocrine neoplasia (MEN) and von Hippel-Lindau disease (VHL), in Japan. About 30% of the respondents had seen patients with either MEN or VHL, but the number of patients most of respondents had encountered was 5 or fewer. On the other hand, a large number of patients had been seen in a few hospitals, which seemed to be the result of the availability of specialists, rather than of geographic location. Although nearly 90% of hospitals had performed genetic tests, less than half of the hospitals had a clinical genetics division that provided genetic counseling to patients and/or family members. Not all of the respondents were thoroughly familiar with the "Guidelines for genetic testing" proposed by the consortium of Japanese genetic-medicine-related societies in 2003. Only 27.8% of respondents have read the guidelines and understood their concepts.

Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database

“…One of the reasons for the low rate of response and experience is that we sent request letters to the board of representatives of the Japan Endocrine Society, which includes many basic scientists, obstetricians and paediatric endocrinologists, who rarely see patients with MEN1. In our earlier study, which surveyed experience of familial endocrine tumour syndromes among Japanese physicians, only 15% of respondents had experience with clinical care of patients with MEN1 despite 75% of respondents being either endocrine surgeons, urologists or internists 27 . Many clinicians may not be fully aware of the possibility of MEN1 when they see patients with endocrine tumours, and patients with MEN1 may be left undiagnosed because of insufficient work‐ups for other endocrine lesions, family history, or genetic information.…”

“…In our earlier study, which surveyed experience of familial endocrine tumour syndromes among Japanese physicians, only 15% of respondents had experience with clinical care of patients with MEN1 despite 75% of respondents being either endocrine surgeons, urologists or internists. 27 Many clinicians may not be fully aware of the possibility of MEN1 when they see patients with endocrine tumours, and patients with MEN1 may be left undiagnosed because of insufficient work-ups for other endocrine lesions, family history, or genetic information.…”