Current Topics in Environmental Health and Preventive Medicine Masakazu Washio Gen Kobashi Editors Epidemiological Studies of Specified Rare and Intractable Disease Current Topics in Environmental Health and Preventive Medicine Series Editor Takemi Otsuki Kurashiki, Japan Current Topics in Environmental Health and Preventive Medicine, published in partnership with the Japanese Society of Hygiene, is designed to deliver well written volumes authored by experts from around the globe, covering the prevention and environmental health related to medical, biological, molecular biological, genetic, physical, psychosocial, chemical, and other environmental factors. The series will be a valuable resource to both new and established researchers, as well as students who are seeking comprehensive information on environmental health and health promotion. More information about this series at http://www.springer.com/series/13556 Masakazu Washio • Gen Kobashi Editors Epidemiological Studies of Specified Rare and Intractable Disease Editors Masakazu Washio Gen Kobashi St. Mary’s College Dokkyo Medical University Kurume Mibu Fukuoka Tochigi Japan Japan ISSN 2364-8333 ISSN 2364-8341 (electronic) Current Topics in Environmental Health and Preventive Medicine ISBN 978-981-13-1095-9 ISBN 978-981-13-1096-6 (eBook) https://doi.org/10.1007/978-981-13-1096-6 Library of Congress Control Number: 2018951099 © Springer Nature Singapore Pte Ltd. 2019 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore Preface “Nanbyo” (i.e., rare intractable diseases) may be a heavy burden not only on the patients but also on their family members because these diseases have few estab- lished therapies yet, usually develop chronically, and often lead to great disabilities. The Japanese government has been promoting research on the etiology and treat- ment of “Nanbyo” in order to detect the causes of these diseases. Consequently, several epidemiological studies have revealed new findings, which suggest clues to understand the pathogeneses of “Nanbyo.” We are glad to have the great opportunity to introduce these findings through this book. We hope that this book will serve as one of the useful resources for all health- care workers who treat and care “Nanbyo,” as well as researchers who are interested in “Nanbyo” and its epidemiology. Kurume, Fukuoka, Japan Masakazu Washio Mibu, Tochigi, Japan Gen Kobashi v Contents 1 Introduction of Epidemiological Studies of “Nanbyo” . . . . . . . . . . . . 1 Masakazu Washio and Yutaka Inaba 2 Risk Factors for Ossification of Posterior Longitudinal Ligament . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 Mitsumasa Umesawa, Koji Uchiyama, Hiroshi Taneichi, and Gen Kobashi 3 Descriptive and Analytic Epidemiology of Idiopathic Osteonecrosis of the Femoral Head in Japan . . . . . . . . . . . . . . . . . . . . 33 Wakaba Fukushima 4 Risk Factors in Amyotrophic Lateral Sclerosis . . . . . . . . . . . . . . . . . . 47 Kazushi Okamoto 5 Case-Control Study of Idiopathic Parkinson’s Disease in Japan . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 61 Keiko Tanaka and Yoshihiro Miyake 6 Descriptive and Analytic Epidemiology of Idiopathic Normal Pressure Hydrocephalus (iNPH) in Japan . . . . . . . . . . . . . . . 83 Nagato Kuriyama, Masakazu Miyajima, Madoka Nakajima, Takeo Kato, Michiko Kurosawa, Wakaba Fukushima, Takahiko Tokuda, Yoshiyuki Watanabe, Etsuko Ozaki, Teruhide Koyama, Daisuke Matsui, Isao Watanabe, and Hajime Arai 7 Case-Control Study of Idiopathic Pulmonary Fibrosis in Japan . . . . 103 Yoshihiro Miyake 8 Epidemiology of Ulcerative Colitis in Japan . . . . . . . . . . . . . . . . . . . . 117 Satoko Ohfuji 9 Epidemiology of Crohn’s Disease in Japan . . . . . . . . . . . . . . . . . . . . . 133 Koji Uchiyama, Mitsumasa Umesawa, Yasuo Haruyama, Toshimi Sairenchi, and Gen Kobashi vii viii Contents 10 The Role of Gene–Environment Interaction in the Etiology of SLE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147 Chikako Kiyohara and Masakazu Washio 11 Epidemiological Studies of Specified Rare and Intractable Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 163 Naoyasu Ueda and Takahiko Horiuchi Chapter 1 Introduction of Epidemiological Studies of “Nanbyo” Masakazu Washio and Yutaka Inaba Abstract “Nanbyo” in Japanese is commonly used in the Japanese society to refer to so-called “intractable diseases.” In this chapter, we would like to introduce “Nanbyo” and the role of the Research Committee of the Epidemiology of “Nanbyo.” In 1972, the Japanese government began systemic countermeasures against “Nanbyo.” Since then, the government has been promoting research on “Nanbyo.” The Research Committee of the Epidemiology of “Nanbyo” was first organized in 1976. Because “Nanbyo” are diseases of low incidence and patients are scattered all over Japan, epidemiologists and clinicians work together to prevent laborious work as well as to save cost, and epidemiologists have many precious experiences by working with clinicians. Furthermore, younger epidemiologists are able to learn how to conduct epidemiological studies from senior epidemiologists of other uni- versities and research institutes all over Japan. Although the involvement of epide- miologists was much lower in Japan than in the United Kingdom and the United States, based on the success experience of “Nanbyo,” the government promotes collaborative studies with epidemiologists and clinicians to investigate not only “Nanbyo” but also other research subjects. Keywords Nanbyo (intractable diseases) · Epidemiology M. Washio (*) Department of Community Health and Clinical Epidemiology, St. Mary’s College, Kurume City, Fukuoka, Japan e-mail: [email protected] Y. Inaba Department of Epidemiology and Environmental Health, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan e-mail: [email protected] © Springer Nature Singapore Pte Ltd. 2019 1 M. Washio, G. Kobashi (eds.), Epidemiological Studies of Specified Rare and Intractable Disease, Current Topics in Environmental Health and Preventive Medicine, https://doi.org/10.1007/978-981-13-1096-6_1 2 M. Washio and Y. Inaba 1.1 What Is “Nanbyo”? “Nanbyo” in Japanese is commonly used in the Japanese society to refer to so- called “intractable diseases,” diseases which are not medically or clearly defined [1, 2]. Since the diagnosis of “intractable diseases” may depend on the level of health care and the social state of affairs in a country at that time, infectious diseases such as dysentery, cholera, and tuberculosis were categorized as “intractable diseases” at a time when there was neither sufficient health care nor effective treatment in Japan. Improvement of public health and advances in medicine after World War II have given Japan one of the highest life expectancies in the world (i.e., 80.8 years old for men and 87.1 years old for women in 2015) [2]. With dramatically improved health care and medical care, the abovementioned infectious diseases can now be treated, and are no longer considered intractable. However, some diseases remain difficult to treat and easily become chronic; these are the kind of diseases that are now referred to as “Nanbyo” in Japan [1, 2]. According to the definition of “Nanbyo” published by the Japanese Ministry of Health and Welfare in 1972 [1, 2], “Nanbyo” refers to: (1) diseases whose cause has not yet been detected and for which there is no estab- lished therapy, and which may have a considerably high risk of disability (e.g., Behçet’s disease, myasthenia gravis, aplastic anemia, and malignant rheuma- toid arthritis) [1, 2], and (2) diseases that chronically developed and require a significant amount of labor for the patient’s care, causing a heavy burden on other family members of the patient, both financially and mentally (e.g., pediatric cancer, pediatric chronic nephritis, pediatric asthma, progressive muscular dystrophy, and renal insuffi- ciency of dialysis patients) [1, 2]. 1.2 Measures against “Nanbyo” After World War II, in Japan, acute infectious diseases decreased with the improve- ment of public health and the progress in medicine while chronic diseases such as cancers and cardiovascular diseases increased [2]. Although various countermea- sures were taken against cancers, cardiovascular diseases, infantile chronic diseases, and severe mental and physical disabilities, a national counterplan against “Nanbyo” was not sufficiently systematized due to obscure etiologies and strange clinical fea- tures [3]. Subacute myelo-optico-neuropathy (SMON), which was prevalent throughout Japan towards the end of 1960s, was the first “Nanbyo” in Japan [2–5]. The Japanese government organized task-force research groups for SMON consisting of clini- cians, pathologists, neurologists, microbiologists, chemists, pharmacologists,