Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing
By
Nannan Xie
Yan He
Danlei Wu
July 7, 2026
Clinical Scorecard: Case Study: Hereditary Thrombotic Thrombocytopenic Purpura Presenting as Immune Thrombocytopenia: Challenges in Diagnosis via Whole-Exome Sequencing
At a Glance
Category Detail
Condition Hereditary Thrombotic Thrombocytopenic Purpura (hTTP) Key Mechanisms Deficiency of ADAMTS13 protease leads to accumulation of ultra-large von Willebrand factor multimers, triggering platelet microthrombus formation. Target Population Pediatric patients with recurrent thrombocytopenia and suggestive familial bleeding history. Care Setting Clinical diagnosis and genetic testing in pediatric hematology.
Key Highlights
Atypical presentation of hTTP often misdiagnosed as ITP. Initial whole-exome sequencing may yield false-negative results. Targeted genetic testing and ADAMTS13 activity assessment are crucial for diagnosis. Partial clinical response to corticosteroids and IVIG complicates diagnosis. Family history of severe thrombocytopenia and neonatal death is significant. Guideline-Based Recommendations
Diagnosis
Perform targeted genetic sequencing for ADAMTS13 in suspected hTTP cases. Consider functional assessment of ADAMTS13 activity. Management
Utilize corticosteroids, IVIG, and platelet transfusions as part of treatment. Monitoring & Follow-up
Regularly assess platelet counts and monitor for signs of bleeding. Risks
Misdiagnosis can lead to inappropriate treatment and delayed diagnosis. Patient & Prescribing Data
22-month-old female with recurrent thrombocytopenia.
Patient showed partial response to corticosteroids and IVIG; maintained on oral prednisone post-discharge.
Clinical Best Practices
Prompt genetic testing for children with unexplained recurrent thrombocytopenia. Awareness of atypical presentations of hTTP in pediatric patients. Related Resources & Content
