For Early Diagnosis of Young Patients With Werner Syndrome: Indication for Genetic Testing

    February 2025 in “ Geriatrics and gerontology international/Geriatrics & gerontology international ”
    Tetta Sato, Yoshiro Maezawa, Hisaya Kato, Mayumi Shoji, Yukari Maeda, Hiyori Kaneko, Kazuto Aono, Yoshitaka Kubota, Toshibumi Taniguchi, Toshiyuki Oshitari, Sei‐ichiro Motegi, Yoichi Takami, Hironori Nakagami, Akira Taniguchi, Kazuhisa Watanabe, Minoru Takemoto, Masaya Koshizaka, Rika Kosaki, Muneaki Matsuo, Hideo Kaneko, Kenji Ihara, Junko Oshima, Koutaro Yokote
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    TLDR Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
    The study emphasizes the importance of early diagnosis of Werner syndrome (WS) in young patients, analyzing 30 individuals aged 10-30 years. It found that 13 patients were genetically confirmed to have WS, while 17 were diagnosed based on clinical symptoms. Key symptoms included progeroid changes of hair and cataracts, both present in 93.1% of cases, and skin changes in 84.6%. The average age at diagnosis for genetically confirmed cases was 23.6 years. The study suggests that genetic testing should be considered for young patients with bilateral cataracts, hair changes, and additional signs such as short stature, low bodyweight, or metabolic abnormalities, despite limitations like a small sample size and variability in symptom evaluation.
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