Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura

• Published in: Journal of thrombosis and haemostasis 2019-04, Vol.17 (4), p.666-669
• Main Authors: Ferrari, Barbara, Cairo, Andrea, Pagliari, Maria Teresa, Mancini, Ilaria, Arcudi, Sara, Peyvandi, Flora
• Format: Article
• Language: English
• Subjects: ADAMTS13 Protein - blood; ADAMTS13 Protein - deficiency; ADAMTS13 Protein - genetics; ADAMTS‐13; Complications; Congenital diseases; Delayed Diagnosis; Diagnosis; DNA Mutational Analysis; Family medical history; Female; Genetic Predisposition to Disease; Genotypes; Humans; Ischemia; ischemic stroke; Microvasculature; Middle Aged; Morbidity; Mutation; Phenotype; Phenotypes; Predictive Value of Tests; Purpura; Purpura, Thrombotic Thrombocytopenic - blood; Purpura, Thrombotic Thrombocytopenic - congenital; Purpura, Thrombotic Thrombocytopenic - diagnosis; Purpura, Thrombotic Thrombocytopenic - therapy; Recurrence; Thrombocytopenic purpura; Thrombosis; Thrombotic thrombocytopenic purpura; Time Factors; TTP; Upshaw‐Schulman syndrome
• ISSN: 1538-7933; 1538-7836; 1538-7836
• DOI: 10.1111/jth.14409

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.