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.
Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura / B. Ferrari, A. Cairo, M. Pagliari, I. Mancini, S. Arcudi, F. Payvandi. - In: JOURNAL OF THROMBOSIS AND HAEMOSTASIS. - ISSN 1538-7933. - 17:4(2019 Apr), pp. 666-669.
|Titolo:||Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura|
|Parole Chiave:||TTP ; ADAMTS-13; Upshaw-Schulman syndrome; ischemic stroke; mutation; thrombotic thrombocytopenic purpura|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||apr-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1111/jth.14409|
|Appare nelle tipologie:||01 - Articolo su periodico|
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