Abstract Number: PB1250
Meeting: ISTH 2020 Congress
Background: Myeloproliferative Neoplasms (MPN) are rare in pediatrics and management is complex due to limited literature. Classical MPNs include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis. The most common complications are hemorrhage, thrombosis, and leukemogenic conversion. Management is further complicated in patients with acquired von Willebrand (VW) disease. Treatment options for PV in adults include phlebotomy, hydroxyurea, and pegylated-interferon but treatment in pediatrics is less well-characterized.
Aims: Report diagnosis and management of refractory PV with acquired VW disease in a pediatric patient.
Methods: Literature review and expert consultation for single case report.
Results: Our patient is a 10 year old female who presented with a longstanding history of headaches and intermittent pain, numbness and cyanosis of her extremities and a platelet count of 1,125 X 109/L. A diagnosis of ET was made by bone marrow evaluation and presence of JAK2 V617F mutation. Laboratory evaluation confirmed low VW factor and aspirin was discontinued despite symptom improvement. Her diagnosis was changed to PV due to increased hematocrit at 46.6% with low erythropoietin level. The patient was started on hydroxyurea but was switched to pegylated interferon due to severe persistent oral ulcers. Patient’s course has been complicated by significant transaminitis and treatment was changed to a combined regimen of low dose hydroxyurea (5mg/kg) and pegylated-interferon (45mcg every other week). Patient is currently symptom-free on this regimen with platelet counts below 600 X 109/L and normal hemoglobin/hematocrit with minimal side effects.
Conclusions: Distinguishing PV vs ET in children is challenging as presentations can be similar and diagnostic criteria are extrapolated from adults. The distinction between PV and ET is vital as PV patients have a poorer prognosis. Management includes preventing thrombo-hemorrhagic complications, which can be challenging in patients with acquired VW disease. This case demonstrates the complexity of diagnosis and management of MPNs in the pediatric population.
To cite this abstract in AMA style:Jain J, Tang A, Bennett C. Challenges in Diagnosing and Treating Polycythemia Vera with Acquired von Willebrand Disease in a Pediatric Patient [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/challenges-in-diagnosing-and-treating-polycythemia-vera-with-acquired-von-willebrand-disease-in-a-pediatric-patient/. Accessed January 26, 2022.
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