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Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura.
Ferrari, Barbara; Cairo, Andrea; Pagliari, Maria Teresa; Mancini, Ilaria; Arcudi, Sara; Peyvandi, Flora.
Affiliation
  • Ferrari B; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.
  • Cairo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.
  • Pagliari MT; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.
  • Mancini I; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.
  • Arcudi S; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
  • Peyvandi F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.
J Thromb Haemost ; 17(4): 666-669, 2019 Apr.
Article de En | MEDLINE | ID: mdl-30762934
ABSTRACT
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.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Purpura thrombotique thrombocytopénique / Analyse de mutations d'ADN / Protéine ADAMTS13 / Mutation Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limites: Female / Humans / Middle aged Langue: En Journal: J Thromb Haemost Sujet du journal: HEMATOLOGIA Année: 2019 Type de document: Article Pays d'affiliation: Italie

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Purpura thrombotique thrombocytopénique / Analyse de mutations d'ADN / Protéine ADAMTS13 / Mutation Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limites: Female / Humans / Middle aged Langue: En Journal: J Thromb Haemost Sujet du journal: HEMATOLOGIA Année: 2019 Type de document: Article Pays d'affiliation: Italie