Scholarlink

<p>Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare genetic disorder caused by a severe deficiency in ADAMTS13 enzyme activity, leading to potentially fatal perinatal outcomes and requiring urgent management. While the clinical and biological aspects of the disease are well-documented, pathological findings are less commonly described. We report two cases of cTTP within the same family, both resulting in perinatal death. Autopsies of the neonate and the subsequent fetal recurrence revealed a distinctive and prominent multivisceral glomeruloid vascular proliferation, an unreported feature in this syndrome. However, the presence of multiple thrombi along with ischemic and hemorrhagic changes suggested an underlying thrombotic microangiopathy.Whole genome sequencing confirmed cTTP, identifying two novel pathogenic variants in the <i>ADAMTS13</i> gene. Beyond expanding the phenotypic and genotypic spectrum of this disorder, the unusual vascular proliferation contributes to a deeper understanding of the underlying physiopathological mechanisms.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月4日

查看全文
  • Roberta Maragliano,
  • Adélie Perrot,
  • Philippe Loget,
  • Claire Combescure,
  • Nicolas Belhomme,
  • Marie Faoucher,
  • Christele Dubourg,
  • Mélanie Fradin,
  • Sophie Collardeau-Frachon

摘要

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare genetic disorder caused by a severe deficiency in ADAMTS13 enzyme activity, leading to potentially fatal perinatal outcomes and requiring urgent management. While the clinical and biological aspects of the disease are well-documented, pathological findings are less commonly described. We report two cases of cTTP within the same family, both resulting in perinatal death. Autopsies of the neonate and the subsequent fetal recurrence revealed a distinctive and prominent multivisceral glomeruloid vascular proliferation, an unreported feature in this syndrome. However, the presence of multiple thrombi along with ischemic and hemorrhagic changes suggested an underlying thrombotic microangiopathy.Whole genome sequencing confirmed cTTP, identifying two novel pathogenic variants in the ADAMTS13 gene. Beyond expanding the phenotypic and genotypic spectrum of this disorder, the unusual vascular proliferation contributes to a deeper understanding of the underlying physiopathological mechanisms.