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