Abstract Number: PB1603
Meeting: ISTH 2020 Congress
Theme: Platelets and Megakaryocytes » Megakaryocytes and Thrombopoiesis
Background: Essential thrombocythemia is one of the ‘classic’ Philadelphia chromosome negative myeloproliferative neoplasm characterized by sustained thrombocytosis, increased megakaryopoiesis and high risk of vascular complications. ET is very rare in childhood. The annual incidence is approximately 1 per 10,000,000 in children less than 14 years . The genetic landscape and clonal features in childhood ET has not been well defined. There is no evidence-based guidance on the diagnosis of childhood ET.
Aims: Characterize the different mutation profiles and to evaluate the treatment modalities used and the potential long-term outcome.
Methods: A retrospective case study was conducted at KFSHRC . Medical records (28) pediatric patients (age ≤ 14 years at diagnosis) with ET from 1987 to 2017, were reviewed and evaluated.
Results: More than half of the patients were found to have positive history of parental consanguinity (57.1%) whereas positive family history was documented for more than a quarter of our patients (28.6%). JAK2 mutation was positive in 2 of 26 patients (7.7%). Treatment included Low Dose Aspirin (LDA) in 7 patients (50.0%), combination of LDA with Hydroxyurea in 3 patients (21.4%), Hydroxyurea in 2 patients (14.3%), combination of platelets pheresis with LDA and Anagrelide in 1 patient each (7.1%). During the treatment, 2 patients experienced stroke (7.1%),
1 patient developed Budd-chiari syndrome (3.6%) and 1 patient developed azoospermia (3.6%).
Conclusions: The incidence of ET in children is extremely low in Saudi Arabia. Notably, most of the children with ET were asymptomatic and thrombocytosis was often discovered incidentally. JAK2 mutation has no known impact on the prognosis or on the outcome of the disease in the pediatric age group which in contrast to the adult ET. This cohort of patients must be considered at high risk for complications particularly during acute precipitating infectious episode. The potential complications and clinical course of pediatric ET are unpredictable.
To cite this abstract in AMA style:
Ameen M, Almusa A, Sidiqui K, Alsaleh M, Aljefri A. Essential Thrombocythemia (ET): A Study of Clinical Features and Treatment Outcome in Pediatric Patients at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/essential-thrombocythemia-et-a-study-of-clinical-features-and-treatment-outcome-in-pediatric-patients-at-king-faisal-specialist-hospital-and-research-centre-riyadh-saudi-arabia/. Accessed October 1, 2023.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/essential-thrombocythemia-et-a-study-of-clinical-features-and-treatment-outcome-in-pediatric-patients-at-king-faisal-specialist-hospital-and-research-centre-riyadh-saudi-arabia/