Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura

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Essentials Congenital thrombotic thrombocytopenic purpura (cTTP) is a very rare thrombotic microangiopathy. Its rarity and great phenotype heterogeneity may account for misdiagnosis. We report the history of a middle-aged woman with cTTP, misdiagnosed until adulthood. Accurate clinical history is crucial for early diagnosis to prevent long-term sequelae. Summary: Thrombotic thrombocytopenic purpura (TTP) is an acute life-threatening disorder characterized by multiple organ ischemia due to disseminated thrombus formation in the microvasculature. The congenital form of the disease (Upshaw-Schulman syndrome) is related to ADAMTS13 mutations. Adulthood-onset of TTP does not exclude the congenital form of the disease and a diagnostic delay may account for a great morbidity burden in these patients. We describe the case of a middle-aged woman who presented to our attention with a clinical diagnosis of a chronic relapsing form of TTP. The medical history of the patient raised the suspicion of a congenital form of TTP. Phenotype and genotype tests were performed, and clinical diagnosis was confirmed. Upshaw-Schulman syndrome is a rare congenital disease with a great phenotype heterogeneity that can be diagnosed also in adulthood. Accurate clinical history is crucial. Early diagnosis can prevent recurrences and long-term organ damage with long-term sequelae.

Original languageEnglish
Pages (from-to)666-669
Number of pages4
JournalJournal of Thrombosis and Haemostasis
Issue number4
Publication statusPublished - Apr 1 2019


  • ADAMTS-13
  • ischemic stroke
  • mutation
  • thrombotic thrombocytopenic purpura
  • TTP
  • Upshaw-Schulman syndrome

ASJC Scopus subject areas

  • Hematology


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