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<p>Werner syndrome is a rare progeroid condition caused by a mutation in the WRN gene. It is characterized primarily by premature aging, diabetes mellitus, atherosclerosis, and an increased risk of malignancy. In this case, we present a man in his 40s with liver cirrhosis who was subsequently diagnosed with Werner syndrome. Shortly afterwards, he developed refractory ascites and a non-healing ulcer on his left big toe and ultimately died of liver failure. Despite having only mild fatty liver disease and being of normal weight, his liver became cirrhotic within a little over 4 years. Although a liver biopsy was not performed, the presumed etiology of his liver cirrhosis was non-alcoholic fatty liver disease (NAFLD) due to fatty liver disease. This case report highlights the importance of considering Werner syndrome in the differential diagnosis of fatty liver, particularly in the absence of obesity, as it can lead to the rapid progression of NAFLD-related liver cirrhosis.</p>

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A case of rapid-progressing liver cirrhosis complicated by Werner syndrome

  • 期刊论文

  • 发表日期：

    2025年8月4日

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  • Shinji Miyajima,
  • Tomoya Ikeda,
  • Kyosuke Goda,
  • Yuichi Tanaka,
  • Haruo Takaya,
  • Takehiro Sando,
  • Toyokazu Hukunaga

摘要

Werner syndrome is a rare progeroid condition caused by a mutation in the WRN gene. It is characterized primarily by premature aging, diabetes mellitus, atherosclerosis, and an increased risk of malignancy. In this case, we present a man in his 40s with liver cirrhosis who was subsequently diagnosed with Werner syndrome. Shortly afterwards, he developed refractory ascites and a non-healing ulcer on his left big toe and ultimately died of liver failure. Despite having only mild fatty liver disease and being of normal weight, his liver became cirrhotic within a little over 4 years. Although a liver biopsy was not performed, the presumed etiology of his liver cirrhosis was non-alcoholic fatty liver disease (NAFLD) due to fatty liver disease. This case report highlights the importance of considering Werner syndrome in the differential diagnosis of fatty liver, particularly in the absence of obesity, as it can lead to the rapid progression of NAFLD-related liver cirrhosis.