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Recognizing and managing hereditary and acquired thrombotic thrombocytopenic purpura in infants and children
Anam Siddiqui1,2, Janna M Journeycake1, Azra Borogovac2
1Department of Pediatrics, College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Insights
Hereditary and acquired thrombotic thrombocytopenic purpura (TTP) in children are rare, fatal disorders often misdiagnosed. Prompt diagnosis and management, focusing on ADAMTS13 activity, are crucial for survival.
Area of Science:
- Pediatric Hematology
- Autoimmune Disorders
- Thrombotic Microangiopathies
Background:
- Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening condition caused by severe deficiency of ADAMTS13 (A disintegrin and Metalloprotease with a ThromboSpondin type 1 motif, member 13).
- TTP in infants and children, both hereditary and acquired, presents unique diagnostic and management challenges, often leading to misdiagnosis and delayed treatment.
- Early recognition and intervention are critical due to the potential for rapid fatality.
Purpose of the Study:
- To outline the initial presentation, diagnostic approaches, and effective management strategies for pediatric TTP.
- To highlight the importance of measuring ADAMTS13 activity for accurate diagnosis.
- To discuss current and emerging therapeutic options for both hereditary and acquired forms of TTP in children.
Main Methods:
- Review of clinical presentations and diagnostic criteria for pediatric TTP.
- Discussion of laboratory assessment, emphasizing ADAMTS13 activity measurement.
- Analysis of treatment modalities including plasma therapy, plasma exchange, immunosuppression, and novel agents.
Main Results:
- Hereditary TTP often presents in neonates with severe hemolysis and hyperbilirubinemia, though diagnosis is frequently delayed until later childhood.
- Acquired TTP is more prevalent in older children, particularly girls, and is often linked to systemic lupus erythematosus.
- ADAMTS13 activity assays are increasingly accessible and vital for diagnosis.
Conclusions:
- Prompt diagnosis of pediatric TTP, guided by ADAMTS13 activity levels, is essential for effective management and improved outcomes.
- Plasma therapy remains a cornerstone for hereditary TTP, with recombinant ADAMTS13 as a future possibility.
- Plasma exchange and immunosuppression are standard for acquired TTP, with caplacizumab showing promise as an alternative, particularly in adults.
Abstract:
We describe how infants and children with hereditary and acquired autoimmune thrombotic thrombocytopenic purpura (TTP) initially present and how they can be promptly diagnosed and effectively managed. These are uncommon disorders that are commonly misdiagnosed and can be rapidly fatal. TTP is caused by a severe deficiency of the plasma protease, A disintegrin and Metalloprotease with a ThromboSpondin type 1 motif, member 13 (ADAMTS13). Measurement of ADAMTS13 activity is becoming easily accessible. A common presentation of hereditary TTP is neonatal severe hemolysis and hyperbilirubinemia. However, the median age of diagnosis is not until 5.5 years. Plasma is effective treatment for exacerbations and for prophylaxis. Plasma may be replaced by recombinant ADAMTS13 when it becomes available. Acquired TTP is more frequent in older children, in whom it is more common in girls and is commonly associated with systemic lupus erythematosus. For acquired TTP, plasma exchange and immunosuppression are the current treatment for acute episodes; caplacizumab is now commonly used in adults and may replace plasma exchange.
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