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Immune or inherited thrombocytopenia? A population-based cohort study on children and adolescents presenting with a low platelet count
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  • Lauri-Matti Kulmala,
  • Henri Aarnivala,
  • Tytti Pokka,
  • Anu Huurre,
  • Liisa Järvelä,
  • Sauli Palmu,
  • Tuuli Pöyhönen,
  • Riitta Niinimäki
Lauri-Matti Kulmala
Oulun yliopisto Kliinisen laaketieteen laitos

Corresponding Author:[email protected]

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Henri Aarnivala
Oulun yliopisto Kliinisen laaketieteen laitos
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Tytti Pokka
Medical Research Center Oulu
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Anu Huurre
TYKS Turu yliopistollinen keskussairaala Lasten ja nuorten klinikka
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Liisa Järvelä
TYKS Turu yliopistollinen keskussairaala Lasten ja nuorten klinikka
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Sauli Palmu
Tays
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Tuuli Pöyhönen
Kuopion yliopistollinen sairaala
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Riitta Niinimäki
Oulun yliopisto Kliinisen laaketieteen laitos
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Abstract

Background: Thrombocytopenia is a common hematologic finding in children and adolescents. Immune thrombocytopenia (ITP) is the most common cause of this finding, but the differential diagnosis includes a growing list of genetic disorders. We aimed to report differences in phenotypes of patients with ITP, inherited platelet disorder (IPD)/primary immunodeficiency disorder (PID), and other causes, with a focus on differentiating ITP from inherited thrombocytopenia. Procedure: This retrospective, population-based observational cohort from 2006 to 2020 involved 506 Finnish children under 16 years of age presenting with isolated thrombocytopenia. Results: Of the 506 participants, 79.7% had ITP, 6.7% had IPD/PID, and 13.6% had other causes of thrombocytopenia. A platelet count of ≤12 × 10 9/l best distinguished between ITP and other reasons with a sensitivity of 60% and a specificity of 80%. Among patients with the lowest platelet count of <10 × 10 9/l, 95.9% had ITP, 3.3% had IPD/PID, and 0.8% had other causes. Severe bleeding events were reported in 20 patients (4.0%), but there were no cases of intracranial or fatal bleeding due to thrombocytopenia. Up to 50% of patients with a high suspicion of inherited thrombocytopenia remained without a specific diagnosis despite genetic testing. Conclusions: ITP remains the most common cause of thrombocytopenia. A platelet count of ≤12 × 10 9/l often leads to an ITP diagnosis. Genetic disorders are rare but should be suspected in patients with persisting thrombocytopenia, especially with platelet counts constantly above 12 × 10 9/l, a positive family history, or atypical clinical features.
14 Jun 2024Submission Checks Completed
14 Jun 2024Assigned to Editor
14 Jun 2024Submitted to Pediatric Blood & Cancer
25 Jun 2024Reviewer(s) Assigned
10 Jul 2024Review(s) Completed, Editorial Evaluation Pending
18 Jul 2024Editorial Decision: Revise Major
12 Sep 2024Submission Checks Completed
12 Sep 2024Assigned to Editor
12 Sep 20241st Revision Received
13 Sep 2024Review(s) Completed, Editorial Evaluation Pending
13 Sep 2024Reviewer(s) Assigned
20 Sep 2024Editorial Decision: Accept