Aging
Navigate
Submit an Article
Research Paper|Volume 12, Issue 24|pp 24940—24956

Time gap between the onset and diagnosis in Werner syndrome: a nationwide survey and the 2020 registry in Japan

Masaya Koshizaka1, Yoshiro Maezawa1, Yukari Maeda1, Mayumi Shoji1, Hisaya Kato1, Hiyori Kaneko1, Takahiro Ishikawa1, Daisuke Kinoshita1,2, Kazuki Kobayashi1,2, Junji Kawashima3, Akiko Sekiguchi4, Sei-ichiro Motegi4, Hironori Nakagami5, Yoshihiko Yamada6, Shinji Tsukamoto7, Akira Taniguchi7, Ken Sugimoto8, Yukiko Shoda9, Kunihiko Hashimoto10, Toru Yoshimura11, Daisuke Suzuki12, Masafumi Kuzuya13, Minoru Takemoto1,14, Koutaro Yokote1
  • 1Department of Endocrinology, Hematology, and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan
  • 2Department of Diabetes and Metabolism, Asahi General Hospital, Asahi, Chiba, Japan
  • 3Department of Metabolic Medicine, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan
  • 4Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
  • 5Department of Health Development and Medicine, Osaka University Graduate School of Medicine, Osaka, Japan
  • 6Department of Medicine, Division of Diabetes, Metabolism and Endocrinology, Atami Hospital, International University of Health and Welfare, Atami, Japan
  • 7Department of Orthopaedic Surgery, Nara Medical University, Nara, Japan
  • 8Geriatric and General Medicine, Osaka University, Osaka, Japan
  • 9Department of Dermatology, Sumitomo Hospital, Osaka, Japan
  • 10Department of Diabetes and Endocrinology, Daini Osaka Police Hospital, Osaka, Japan
  • 11Diabetes and Endocrinology, Saga-Ken Medical Centre Koseikan, Saga, Japan
  • 12Department of Dermatology, Showa General Hospital, Tokyo, Japan
  • 13Department of Community Healthcare and Geriatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • 14Department of Medicine, Division of Diabetes, Metabolism and Endocrinology, International University of Health and Welfare, Narita, Japan
Received: October 14, 2020Accepted: December 10, 2020Published: December 29, 2020
https://doi.org/10.18632/aging.202441

Copyright: © 2020 Koshizaka et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Patients with Werner syndrome present with diverse signs of aging that begin in adolescence. A Japanese nationwide survey was conducted to establish a registry that could clarify the disease profile of patients with Werner syndrome. The questionnaires were sent to 7888 doctors. The survey identified 116 patients diagnosed with Werner syndrome based on the diagnosis criteria. Forty patients were enrolled in the registry. Data on clinical symptoms, treatment information, and laboratory examination from patients who provided informed consent were collected. The data at enrollment were analyzed. The patients’ average age at enrollment was 50.1±7.5 years. The mean onset age was 26.1±9.5 years, but the mean age at diagnosis was 42.5±8.6 years. Average height and weight of the study patients were lower than those of Japanese individuals. Almost all patients experienced hair change and cataracts. More than 60% of patients presented with glycolipid abnormalities. Overall, 15% of patients had a history of foot amputation. Approximately 30% of the patients’ parents had a consanguineous marriage. The average grip strength, walking speed, and skeletal muscle mass index met the diagnostic criteria for sarcopenia. The registry revealed that there are opportunities for early diagnosis and intervention; therefore, sensitization about the disease is needed.