Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing - Takeaways - MDSpire

Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing

  • By

  • Nannan Xie

  • Yan He

  • Danlei Wu

  • July 7, 2026

  • 0 min

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  • 1

    A 22-month-old girl presented with isolated severe thrombocytopenia and partial response to corticosteroids and IVIG.

  • 2

    Whole-exome sequencing initially yielded negative results for pathogenic variants, complicating the diagnosis.

  • 3

    Targeted genetic testing later identified compound heterozygous ADAMTS13 variants, confirming hereditary thrombotic thrombocytopenic purpura.

  • 4

    The case highlights diagnostic challenges in pediatric hTTP, including atypical presentations and limitations of routine WES.

  • 5

    ADAMTS13 functional assessment and targeted genetic sequencing are recommended for unexplained recurrent thrombocytopenia.

Original Source(s)

Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing

  • by Nannan Xie, Yan He, Danlei Wu

  • July 7, 2026

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